المؤلفون: Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Mignot C, Heron D, Drunat S, Verloes A, Moore R, Metcalfe A, Kohler S, Zonneveld-Huijssoon E, Kerstjens Frederikse WS, Abbott KM, van Gijn M, Ruvolo D, Roelofs-Prins D, Neerincx PB, van der Vries G, van der Velde JK, Swertz MA, Carneiro F, Ferreira P, Garrido L, Fernandes S, Gullo I, Ferreira M, Jose CS, Barbosa-Matos R, Peters S, Sommer AK, Spier I, Aretz S, Neri M, Bigoni S, Gualandi F, Selvatici R, Ferlini A, Piluso G, Zanobio M, Zeuli R, Torella A, Banfi S, Pinelli M, Morleo M, Nigro V, Smal N, Millevert C, Stamberger H, Weckhuysen S, De Ridder W, Van de Vondel L, de Jonghe P, De Winter J, de Vries G, Baets J, Timmerman V, Muller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Rohrer J, Moloney P, Bellampalli R, Sisodiya SM, Magrinelli F, Cali E, Morsy H, Efthymiou S, Vandrovcova J, Reilly M, Houlden H, Hanna M, Costa A, Robert G, Danis D, Robinson P, Spalding D, Thomas C, Freeberg M, Keane T, Parkinson H, Krebsova A, Dolezalova P, Liskova P, Ryba L, Havlovicova M, Frankova V, Kremlikova RP, Thomasova D, Turnovec M, Macek M, Stojkovic T, Atalaia A, Cohen E, Eymard B, Metay C, Ben Yaou R, Nelson I, Allamand V, Evangelista T, Bonne G, Coarelli G, Heinzmann A, Guillot-Noel L, Davoine C-S, Durr A, Stevanin G, Lebreton E, Lucano C, Chahdil M, Hongnat O, Lagorce D, Hanauer M, Rath A, Bros-Facer V, Gumus G, Raineri E, Gut M, Dabad M, Codina AE, Pico D, Hernandez C, Fernandez-Callejo M, Corvo A, Papakonstantinou A, Matalonga L, Piscia D, Gut IG, Couturier V, Bruel A-L, Duffourd Y, Denomme-Pichon A-S, Vitobello A, Thauvin C, Faivre L, Jackson A, Alexander E, Banka S, Clayton-Smith J, Engelhardt K, Hambleton S, Manera JD, Bettolo CM, Straub V

المصدر: npj Genomic Medicine, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302269; https://eprints.ncl.ac.uk/fulltext.aspx?url=302269/ECBA270E-5F19-4FD7-9F25-70B5F6B6D7ED.pdf&pub_id=302269

الاتاحة: https://eprints.ncl.ac.uk/302269

المؤلفون: Matalonga L., Hernandez-Ferrer C., Piscia D., Cohen E., Cuesta I., Danis D., Denomme-Pichon A. -S., Duffourd Y., Gilissen C., Johari M., Laurie S., Li S., Nelson I., Peters S., Paramonov I., Prasanth S., Robinson P., Sablauskas K., Savarese M., Steyaert W., van der Velde J. K., Vitobello A., Schule R., Synofzik M., Topf A., Vissers L. E. L. M., de Voer R., Aretz S., Capella G., de Voer R. M., Evans G., Pelaez J. G., Holinski-Feder E., Hoogerbrugge N., Laner A., Oliveira C., Rump A., Schrock E., Sommer A. K., Steinke-Lange V., Paske I., Tischkowitz M., Valle L., Banka S., Benetti E., Casari G., Ciolfi A., Clayton-Smith J., Dallapiccola B., de Boer E., Ellwanger K., Faivre L., Graessner H., Haack T. B., Hammarsjo A., Havlovicova M., Hoischen A., Hugon A., Jackson A., Kleefstra T., Lindstrand A., Lopez-Martin E., Macek M., Morleo M., Nigro V., Nordgren A., Pettersson M., Pinelli M., Pizzi S., Posada M., Radio F. C., Renieri A., Rooryck C., Ryba L., Schwarz M., Tartaglia M., Thauvin C., Torella A., Trimouille A., Verloes A., Vissers L., Votypka P., Vyshka K., Zurek B., Baets J., Beijer D., Bonne G., Cossins J., Evangelista T., Hackman P., Hanna M. G., Horvath R., Houlden H., Lau J., Lochmuller H., Macken W. L., Musacchia F., Nascimento A., Natera-de Benito D., Piluso G., Pini V., Pitceathly R. D. S., Polavarapu K., Cruz P. M. R., Sarkozy A., Thompson R., Udd B., Van de Vondel L., Vandrovcova J., Zaharieva I., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Schule-Freyer R., Stevanin G., Timmerman V., van de Warrenburg B., van Os N., Wayand M., Wilke C., Tonda R., Fernandez-Callejo M., Pico D., Garcia-Linares C., Papakonstantinou A., Corvo A., Joshi R., Diez H., Gut I., Beltran S., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Kessler C., Heutink P., Brunner H., Scheffer H., 't Hoen P. A. C., te Paske I., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Specht S., Alexander E., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Bullich G., Garcia C., Hernandez C., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Allamand V., Yaou R. B., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., de Jonghe P., Banfi S., Ferlini A., Selvatici R., Rossi R., Neri M., Spier I., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Castello R., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Beeson D.

المساهمون: Matalonga, L., Hernandez-Ferrer, C., Piscia, D., Cohen, E., Cuesta, I., Danis, D., Denomme-Pichon, A. -S., Duffourd, Y., Gilissen, C., Johari, M., Laurie, S., Li, S., Nelson, I., Peters, S., Paramonov, I., Prasanth, S., Robinson, P., Sablauskas, K., Savarese, M., Steyaert, W., van der Velde, J. K., Vitobello, A., Schule, R., Synofzik, M., Topf, A., Vissers, L. E. L. M., de Voer, R., Aretz, S., Capella, G., de Voer, R. M., Evans, G., Pelaez, J. G., Holinski-Feder, E., Hoogerbrugge, N., Laner, A., Oliveira, C., Rump, A., Schrock, E., Sommer, A. K., Steinke-Lange, V., Paske, I., Tischkowitz, M., Valle, L., Banka, S., Benetti, E., Casari, G., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., de Boer, E., Ellwanger, K., Faivre, L., Graessner, H., Haack, T. B., Hammarsjo, A., Havlovicova, M., Hoischen, A., Hugon, A., Jackson, A., Kleefstra, T., Lindstrand, A., Lopez-Martin, E., Macek, M., Morleo, M., Nigro, V., Nordgren, A., Pettersson, M., Pinelli, M., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Schwarz, M., Tartaglia, M., Thauvin, C., Torella, A., Trimouille, A., Verloes, A., Vissers, L., Votypka, P., Vyshka, K., Zurek, B., Baets, J., Beijer, D., Bonne, G., Cossins, J., Evangelista, T., Hackman, P., Hanna, M. G., Horvath, R., Houlden, H., Lau, J., Lochmuller, H., Macken, W. L.

مصطلحات موضوعية: Diseases, Genetic testing, Genome informatics, Genomic analysis

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34075210; info:eu-repo/semantics/altIdentifier/wos/WOS:000656824000003; volume:29; issue:9; firstpage:1337; lastpage:1347; numberofpages:11; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/H2020/779257, 825575; https://hdl.handle.net/11392/2470697; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107535456; https://www.nature.com/articles/s41431-021-00852-7

الاتاحة: https://hdl.handle.net/11392/2470697
https://doi.org/10.1038/s41431-021-00852-7
https://www.nature.com/articles/s41431-021-00852-7

المؤلفون: Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar M. J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

المساهمون: Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, M. J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33972714; info:eu-repo/semantics/altIdentifier/wos/WOS:000648796300001; volume:29; issue:9; firstpage:1332; lastpage:1336; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/H2020/779257, 825575; https://hdl.handle.net/11392/2470695; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105877975; https://www.nature.com/articles/s41431-021-00901-1

الاتاحة: https://hdl.handle.net/11392/2470695
https://doi.org/10.1038/s41431-021-00901-1
https://www.nature.com/articles/s41431-021-00901-1

المؤلفون: Zurek B., Ellwanger K., Vissers L. E. L. M., Schule R., Synofzik M., Topf A., de Voer R. M., Laurie S., Matalonga L., Gilissen C., Ossowski S., 't Hoen P. A. C., Vitobello A., Schulze-Hentrich J. M., Riess O., Brunner H. G., Brookes A. J., Rath A., Bonne G., Gumus G., Verloes A., Hoogerbrugge N., Evangelista T., Harmuth T., Swertz M., Spalding D., Hoischen A., Beltran S., Graessner H., Haack T. B., Demidov G., Sturm M., Kessler C., Wayand M., Wilke C., Traschutz A., Schols L., Hengel H., Heutink P., Brunner H., Scheffer H., Steyaert W., Sablauskas K., Kamsteeg E. -J., van de Warrenburg B., van Os N., te Paske I., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Bros-Facer V., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Vandrovcova J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., Van de Vondel L., Beijer D., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Balicza P., Molnar M. J., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., Macaya A., Marce-Grau A., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Horvath R., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

المساهمون: Zurek, B., Ellwanger, K., Vissers, L. E. L. M., Schule, R., Synofzik, M., Topf, A., de Voer, R. M., Laurie, S., Matalonga, L., Gilissen, C., Ossowski, S., 't Hoen, P. A. C., Vitobello, A., Schulze-Hentrich, J. M., Riess, O., Brunner, H. G., Brookes, A. J., Rath, A., Bonne, G., Gumus, G., Verloes, A., Hoogerbrugge, N., Evangelista, T., Harmuth, T., Swertz, M., Spalding, D., Hoischen, A., Beltran, S., Graessner, H., Haack, T. B., Demidov, G., Sturm, M., Kessler, C., Wayand, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Steyaert, W., Sablauskas, K., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., te Paske, I., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Bros-Facer, V., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34075208; info:eu-repo/semantics/altIdentifier/wos/WOS:000656824000001; volume:29; issue:9; firstpage:1325; lastpage:1331; numberofpages:7; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11392/2470732; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107583586; https://www.nature.com/articles/s41431-021-00859-0

الاتاحة: https://hdl.handle.net/11392/2470732
https://doi.org/10.1038/s41431-021-00859-0
https://www.nature.com/articles/s41431-021-00859-0

المؤلفون: Patsopoulos N. A., Baranzini S. E., Santaniello A., Shoostari P., Cotsapas C., Wong G., Beecham A. H., James T., Replogle J., Vlachos I. S., McCabe C., Pers T. H., Brandes A., White C., Keenan B., Cimpean M., Winn P., Panteliadis I. -P., Robbins A., Andlauer T. F. M., Zarzycki O., Dubois B., Goris A., Sondergaard H. B., Sellebjerg F., Sorensen P. S., Ullum H., Thorner L. W., Saarela J., Cournu-Rebeix I., Damotte V., Fontaine B., Guillot-Noel L., Lathrop M., Vukusic S., Berthele A., Pongratz V., Buck D., Gasperi C., Graetz C., Grummel V., Hemmer B., Hoshi M., Knier B., Korn T., Lill C. M., Luessi F., Muhlau M., Zipp F., Dardiotis E., Agliardi C., Amoroso A., Barizzone N., Benedetti M. D., Bernardinelli L., Cavalla P., Clarelli F., Comi G., Cusi D., Esposito F., Ferre L., Galimberti D., Guaschino C., Leone M. A., Martinelli V., Moiola L., Salvetti M., Sorosina M., Vecchio D., Zauli A., Santoro S., Mancini N., Zuccala M., Mescheriakova J., Van Duijn C., Bos S. D., Celius E. G., Spurkland A., Comabella M., Montalban X., Alfredsson L., Bomfim I. L., Gomez-Cabrero D., Hillert J., Jagodic M., Linden M., Piehl F., Jelcic I., Martin R., Sospedra M., Baker A., Ban M., Hawkins C., Hysi P., Kalra S., Karpe F., Khadake J., Lachance G., Molyneux P., Neville M., Thorpe J., Bradshaw E., Caillier S. J., Calabresi P., Cree B. A. C., Cross A., Davis M., De Bakker P. W. I., Delgado S., Dembele M., Edwards K., Fitzgerald K., Frohlich I. Y., Gourraud P. -A., Haines J. L., Hakonarson H., Kimbrough D., Isobe N., Konidari I., Lathi E., Lee M. H., Li T., An D., Zimmer A., Madireddy L., Manrique C. P., Mitrovic M., Olah M., Patrick E., Pericak-Vance M. A., Piccio L., Schaefer C., Weiner H., Lage K., Compston A., Hafler D., Harbo H. F., Hauser S. L., Stewart G., D'Alfonso S., Hadjigeorgiou G., Taylor B., Barcellos L. F., Booth D., Hintzen R., Kockum I., Martinelli-Boneschi F., McCauley J. L., Oksenberg J. R., Oturai A., Sawcer S., Ivinson A. J., Olsson T., De Jager P. L.

المساهمون: Patsopoulos, N. A., Baranzini, S. E., Santaniello, A., Shoostari, P., Cotsapas, C., Wong, G., Beecham, A. H., James, T., Replogle, J., Vlachos, I. S., McCabe, C., Pers, T. H., Brandes, A., White, C., Keenan, B., Cimpean, M., Winn, P., Panteliadis, I. -P., Robbins, A., Andlauer, T. F. M., Zarzycki, O., Dubois, B., Goris, A., Sondergaard, H. B., Sellebjerg, F., Sorensen, P. S., Ullum, H., Thorner, L. W., Saarela, J., Cournu-Rebeix, I., Damotte, V., Fontaine, B., Guillot-Noel, L., Lathrop, M., Vukusic, S., Berthele, A., Pongratz, V., Buck, D., Gasperi, C., Graetz, C., Grummel, V., Hemmer, B., Hoshi, M., Knier, B., Korn, T., Lill, C. M., Luessi, F., Muhlau, M., Zipp, F., Dardiotis, E., Agliardi, C., Amoroso, A., Barizzone, N., Benedetti, M. D., Bernardinelli, L., Cavalla, P., Clarelli, F., Comi, G., Cusi, D., Esposito, F., Ferre, L., Galimberti, D., Guaschino, C., Leone, M. A., Martinelli, V., Moiola, L., Salvetti, M., Sorosina, M., Vecchio, D., Zauli, A., Santoro, S., Mancini, N., Zuccala, M., Mescheriakova, J., Van Duijn, C., Bos, S. D., Celius, E. G., Spurkland, A., Comabella, M., Montalban, X., Alfredsson, L., Bomfim, I. L., Gomez-Cabrero, D., Hillert, J., Jagodic, M., Linden, M., Piehl, F., Jelcic, I., Martin, R., Sospedra, M., Baker, A., Ban, M., Hawkins, C., Hysi, P., Kalra, S., Karpe, F., Khadake, J., Lachance, G., Molyneux, P., Neville, M.

مصطلحات موضوعية: Case-Control Studie, Cell Cycle Protein, Chromosomes, Human, GTPase-Activating Protein, Gene Frequency, Genetic Loci, Genomic, Inheritance Pattern, Major Histocompatibility Complex, Microglia, Multiple Sclerosi, Polymorphism, Single Nucleotide, Quantitative Trait Loci, RNA-Seq, Transcriptome, Chromosome Mapping, Genome-Wide Association Study

Relation: info:eu-repo/semantics/altIdentifier/pmid/31604244; info:eu-repo/semantics/altIdentifier/wos/WOS:000488838600040; volume:365; issue:6460; firstpage:eaav7188; journal:SCIENCE; http://hdl.handle.net/11573/1478802; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072692374

الاتاحة: http://hdl.handle.net/11573/1478802
https://doi.org/10.1126/science.aav7188

المؤلفون: Patsopoulos, NA, Baranzini, SE, Santaniello, A, Shoostari, P, Cotsapas, C, Wong, G, Beecham, AH, James, T, Replogle, J, Vlachos, IS, McCabe, C, Pers, TH, Brandes, A, White, C, Keenan, B, Cimpean, M, Winn, P, Panteliadis, I-P, Robbins, A, Andlauer, TFM, Zarzycki, O, Dubois, B, Goris, A, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muehlau, M, Zipp, F, Dardiotis, E, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, P-A, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, J-F, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Hanigan, K, Henderson, P, Hugot, J-P, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, J-F, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL

المصدر: Science , 365 (6460) , Article eaav7188. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10086809/1/TheMultipleSclerosisGenomicMap_Final.pdf; https://discovery.ucl.ac.uk/id/eprint/10086809/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10086809/1/TheMultipleSclerosisGenomicMap_Final.pdf
https://discovery.ucl.ac.uk/id/eprint/10086809/

المؤلفون: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

المساهمون: Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M.

مصطلحات موضوعية: ClinVar, Developmental disorder, Exome reanalysi, Rare diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/36681873; info:eu-repo/semantics/altIdentifier/wos/WOS:001000649600001; volume:25; issue:4; firstpage:100018; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11591/499328; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152173255

الاتاحة: https://hdl.handle.net/11591/499328
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: Jackson A., Lin S. -J., Jones E. A., Chandler K. E., Orr D., Moss C., Haider Z., Ryan G., Holden S., Harrison M., Burrows N., Jones W. D., Loveless M., Petree C., Stewart H., Low K., Donnelly D., Lovell S., Drosou K., Ambrose J. C., Arumugam P., Bevers R., Bleda M., Boardman-Pretty F., Boustred C. R., Brittain H., Brown M. A., Caulfield M. J., Chan G. C., Giess A., Griffin J. N., Hamblin A., Henderson S., Hubbard T. J. P., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Kousathanas A., Lahnstein L., Lakey A., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., McEntagart M., Minneci F., Mitchell J., Moutsianas L., Mueller M., Murugaesu N., Need A. C., O'Donovan P., Odhams C. A., Patch C., Perez-Gil D., Pereira M. B., Pullinger J., Rahim T., Rendon A., Rogers T., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smith S. C., Sosinsky A., Stuckey A., Tanguy M., Taylor Tavares A. L., Thomas E. R. A., Thompson S. R., Tucci A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Riess O., Haack T. B., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Matalonga L., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Ben Yaou R., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Hanna M., Houlden H., Reilly M., Vandrovcova J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., Van de Vondel L., Beijer D., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., Alonso Garcia de la Rosa F. J., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Balicza P., Molnar M. J., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., Macaya A., Marce-Grau A., Osorio A. N., Natera de Benito D., Thompson R., Polavarapu K., Beeson D., Cossins J., Rodriguez Cruz P. M., Hackman P., Johari M., Savarese M., Udd B., Horvath R., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A., Varshney G. K.

المساهمون: Jackson, A., Lin, S. -J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N.

مصطلحات موضوعية: Autosomal recessive ectodermal dysplasia type 14, Closca, Conical teeth, Ectodermal dysplasia, Enamel knot, Extracellular matrix dependant signalling, Hypodontia, TSPEAR, WNT10A, zebrafish fin regeneration

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000961108100001; volume:4; issue:2; firstpage:100186; numberofpages:17; journal:HGG ADVANCES; https://hdl.handle.net/11591/493510; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150337683

الاتاحة: https://hdl.handle.net/11591/493510
https://doi.org/10.1016/j.xhgg.2023.100186

المؤلفون: Sadovnick, AD, Traboulsee, AL, Bernales, CQ, Ross, JP, Forwell, AL, Yee, IM, Guillot-Noel, L, Fontaine, B, Cournu-Rebeix, I, Alcina, A, Fedetz, M, Izquierdo, G, Matesanz, F, Hilven, K, Dubois, B, Goris, A, Astobiza, I, Alloza, I, Antigüedad, A, Vandenbroeck, K, Akkad, DA, Aktas, O, Blaschke, P, Buttmann, M, Chan, A, Epplen, JT, Gerdes, LA, Kroner, A, Kubisch, C, Kümpfel, T, Lohse, P, Rieckmann, P, Zettl, UK, Zipp, F, Bertram, L, Lill, CM, Fernandez, O, Urbaneja, P, Leyva, L, Alvarez-Cermeño, JC, Arroyo, R, Garagorri, AM, García-Martínez, A, Villar, LM, Urcelay, E, Malhotra, S, Montalban, X, Comabella, M, Berger, T, Fazekas, F, Reindl, M, Schmied, MC, Zimprich, A, Vilariño-Güell, C

المصدر: 2079 ; 2073

مصطلحات موضوعية: association, genetics, linkage, multiple sclerosis, plasminogen

Relation: G3-Genes Genomes Genetics; http://hdl.handle.net/10044/1/37492; https://dx.doi.org/10.1534/g3.116.030841

الاتاحة: http://hdl.handle.net/10044/1/37492
https://doi.org/10.1534/g3.116.030841

المؤلفون: Schrewe, L., Lill, C. M., Liu, T., Salmen, A., Gerdes, L. A., Guillot-Noel, L., Akkad, D. A., Blaschke, P., Graetz, C., Hoffjan, S., Kroner, A., Demir, S., Böhme, A., Rieckmann, P., El Ali, A., Hagemann, N., Hermann, D. M., Cournu-Rebeix, I., Zipp, F., Kümpfel, T., Buttmann, M., Zettl, U. K., Fontaine, B., Bertram, L., Gold, R., Chan, A.

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/13625; urn:nbn:de:bvb:20-opus-136252; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-136252; https://doi.org/10.1186/s12974-015-0429-y; https://opus.bibliothek.uni-wuerzburg.de/files/13625/Schrewe_Fs12974-015-0429-y.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/13625
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-136252
https://doi.org/10.1186/s12974-015-0429-y
https://opus.bibliothek.uni-wuerzburg.de/files/13625/Schrewe_Fs12974-015-0429-y.pdf

المؤلفون: Mitrovic M., Patsopoulos N. A., Beecham A. H., Dankowski T., Goris A., Dubois B., D'hooghe M. B., Lemmens R., Van Damme P., Sondergaard H. B., Sellebjerg F., Sorensen P. S., Ullum H., Thorner L. W., Werge T., Saarela J., Cournu-Rebeix I., Damotte V., Fontaine B., Guillot-Noel L., Lathrop M., Vukusik S., Gourraud P. -A., Andlauer T. F. M., Pongratz V., Buck D., Gasperi C., Bayas A., Heesen C., Kumpfel T., Linker R., Paul F., Stangel M., Tackenberg B., Bergh F. T., Warnke C., Wiendl H., Wildemann B., Zettl U., Ziemann U., Tumani H., Gold R., Grummel V., Hemmer B., Knier B., Lill C. M., Luessi F., Dardiotis E., Agliardi C., Barizzone N., Mascia E., Bernardinelli L., Comi G., Cusi D., Esposito F., Ferre L., Comi C., Galimberti D., Leone M. A., Sorosina M., Mescheriakova J., Hintzen R., van Duijn C., Teunissen C. E., Bos S. D., Myhr K. -M., Celius E. G., Lie B. A., Spurkland A., Comabella M., Montalban X., Alfredsson L., Stridh P., Hillert J., Jagodic M., Piehl F., Jelcic I., Martin R., Sospedra M., Ban M., Hawkins C., Hysi P., Kalra S., Karpe F., Khadake J., Lachance G., Neville M., Santaniello A., Caillier S. J., Calabresi P. A., Cree B. A. C., Cross A., Davis M. F., Haines J. L., de Bakker P. I. W., Delgado S., Dembele M., Edwards K., Fitzgerald K. C., Hakonarson H., Konidari I., Lathi E., Manrique C. P., Pericak-Vance M. A., Piccio L., Schaefer C., McCabe C., Weiner H., Goldstein J., Olsson T., Hadjigeorgiou G., Taylor B., Tajouri L., Charlesworth J., Booth D. R., Harbo H. F., Ivinson A. J., Hauser S. L., Compston A., Stewart G., Zipp F., Barcellos L. F., Baranzini S. E., Martinelli-Boneschi F., D'Alfonso S., Ziegler A., Oturai A., McCauley J. L., Sawcer S. J., Oksenberg J. R., De Jager P. L., Kockum I., Hafler D. A., Cotsapas C.

المساهمون: Mitrovic, M., Patsopoulos, N. A., Beecham, A. H., Dankowski, T., Goris, A., Dubois, B., D'Hooghe, M. B., Lemmens, R., Van Damme, P., Sondergaard, H. B., Sellebjerg, F., Sorensen, P. S., Ullum, H., Thorner, L. W., Werge, T., Saarela, J., Cournu-Rebeix, I., Damotte, V., Fontaine, B., Guillot-Noel, L., Lathrop, M., Vukusik, S., Gourraud, P. -A., Andlauer, T. F. M., Pongratz, V., Buck, D., Gasperi, C., Bayas, A., Heesen, C., Kumpfel, T., Linker, R., Paul, F., Stangel, M., Tackenberg, B., Bergh, F. T., Warnke, C., Wiendl, H., Wildemann, B., Zettl, U., Ziemann, U., Tumani, H., Gold, R., Grummel, V., Hemmer, B., Knier, B., Lill, C. M., Luessi, F., Dardiotis, E., Agliardi, C., Barizzone, N., Mascia, E., Bernardinelli, L., Comi, G., Cusi, D., Esposito, F., Ferre, L., Comi, C., Galimberti, D., Leone, M. A., Sorosina, M., Mescheriakova, J., Hintzen, R., van Duijn, C., Teunissen, C. E., Bos, S. D., Myhr, K. -M., Celius, E. G., Lie, B. A., Spurkland, A., Comabella, M., Montalban, X., Alfredsson, L., Stridh, P., Hillert, J., Jagodic, M., Piehl, F., Jelcic, I., Martin, R., Sospedra, M., Ban, M., Hawkins, C., Hysi, P., Kalra, S., Karpe, F., Khadake, J., Lachance, G., Neville, M., Santaniello, A., Caillier, S. J., Calabresi, P. A., Cree, B. A. C., Cross, A., Davis, M. F., Haines, J. L., de Bakker, P. I. W., Delgado, S., Dembele, M., Edwards, K., Fitzgerald, K. C., Hakonarson, H.

Relation: info:eu-repo/semantics/altIdentifier/pmid/31978348; info:eu-repo/semantics/altIdentifier/wos/WOS:000508908200019; volume:180; issue:2; firstpage:403; lastpage:403; numberofpages:1; journal:CELL; http://hdl.handle.net/11579/111709; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077999486

الاتاحة: http://hdl.handle.net/11579/111709
https://doi.org/10.1016/j.cell.2020.01.002

المؤلفون: Schule R, Timmann D, Erasmus CE, Reichbauer J, Baets J, Chinnery P, Durr A, Haack T, Hengel H, Horvath R, Houlden H, Kamsteeg E-J, Kamsteeg C, Lohmann K, Macaya A, Maver A, Molnar J, Munchau A, Peterlin B, Riess O, Schols L, Stevanin G, Synofzik M, Timmerman V, van de Warrenburg B, van Os N, Vandrovcova J, Wayand M, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Graessner H, Zurek B, Ellwanger K, Ossowski S, Demidov G, Sturm M, Schulze-Hentrich JM, Heutink P, Brunner H, Scheffer H, Hoogerbrugge N, Hoischen A, 't Hoen PAC, Vissers LELM, Gilissen C, Steyaert W, Sablauskas K, de Voer RM, Janssen E, de Boer E, Steehouwer M, Yaldiz B, Kleefstra T, Brookes AJ, Veal C, Gibson S, Wadsley M, Mehtarizadeh M, Riaz U, Warren G, Dizjikan FY, Shorter T, Topf A, Straub V, Marini Bettolo C, Specht S, Clayton-Smith J, Banka S, Alexander E, Jackson A, Faivre L, Thauvin C, Vitobello A, Denomme-Pichon A-S, Duffourd Y, Tisserant E, Bruel A-L, Peyron C, Pelissier A, Gut IG, Piscia D, Matalonga L, Papakonstantinou A, Bullich G, Corvo A, Garcia C, Fernandez-Callejo M, Hernandez C, Pico D, Paramonov I, Lochmuller H, Gumus G, Bros-Facer V, Rath A, Hanauer M, Olry A, Lagorce D, Havrylenko S, Izem K, Rigour F, Davoine C-S, Guillot-Noel L, Heinzmann A, Coarelli G, Bonne G, Evangelista T, Allamand V, Nelson I, Yaou RB, Metay C, Eymard B, Cohen E, Atalaia A, Stojkovic T, Macek M, Turnovec M, Thomasova D, Kremlikova RP, Frankova V, Havlovicova M, Kremlik V, Parkinson H, Keane T, Spalding D, Senf A, Robinson P, Danis D, Robert G, Costa A, Patch C, Hanna M, Reilly M, Muntoni F, Zaharieva I, Sarkozy A, de Jonghe P, Nigro V, Banfi S, Torella A, Musacchia F, Piluso G, Ferlini A, Selvatici R, Rossi R, Neri M, Aretz S, Spier I, Sommer AK, Peters S, Oliveira C, Pelaez JG, Matos AR, Jose CS, Ferreira M, Gullo I, Fernandes S, Garrido L, Ferreira P, Carneiro F, Swertz MA, Johansson L, van der Velde JK, van der Vries G, Neerincx PB, Roelofs-Prins D, Kohler S, Metcalfe A, Verloes A, Drunat S, Rooryck C, Trimouille A, Castello R, Morleo M, Pinelli M, Varavallo A, De la Paz MP, Sanchez EB, Martin EL, Delgado BM, de la Rosa FJAG, Ciolfi A, Dallapiccola B, Pizzi S, Radio FC, Tartaglia M, Renieri A, Benetti E, Balicza P, Molnar MJ, Herzog R, Pauly M, Marce-Grau A, Osorio AN, de Benito DN, Thompson R, Polavarapu K, Beeson D, Cossins J, Cruz PMR, Hackman P, Johari M, Savarese M, Udd B, Capella G, Valle L, Holinski-Feder E, Laner A, Steinke-Lange V, Schrock E, Rump A

المصدر: European Journal of Human Genetics, 2021

Relation: https://eprints.ncl.ac.uk/277176

الاتاحة: https://eprints.ncl.ac.uk/277176

المؤلفون: Rebelo, A.P., Eidhof, I.J.M., Cintra, V.P., Guillot-Noel, L., Pereira, C.V., Timmann, D., Traschütz, A., Schöls, L., Coarelli, G., Durr, A., Anheim, M., Tranchant, C., Warrenburg, B.P.C. van de, Guissart, C., Koenig, M., Howell, J., Moraes, C.T., Schenck, A., Stevanin, G., Züchner, S., Synofzik, M.

المصدر: Brain, 144, 5, pp. 1467-1481

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl/handle/2066/237817

الاتاحة: https://repository.ubn.ru.nl/handle/2066/237817
https://doi.org/10.1093/brain/awab071

المؤلفون: Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A.

المساهمون: Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A.

Relation: info:eu-repo/semantics/altIdentifier/pmid/34429526; info:eu-repo/semantics/altIdentifier/wos/WOS:000687958100001; volume:29; issue:9; firstpage:1462; lastpage:1465; numberofpages:4; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11591/463932; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114607324

الاتاحة: http://hdl.handle.net/11591/463932
https://doi.org/10.1038/s41431-021-00935-5

المؤلفون: Damotte, V, Guillot-Noel, L, Patsopoulos, N A, Madireddy, L, El Behi, M, De Jager, P L, Baranzini, S E, Cournu-Rebeix, I, Fontaine, B, Martin, R

المصدر: Damotte, V; Guillot-Noel, L; Patsopoulos, N A; Madireddy, L; El Behi, M; De Jager, P L; Baranzini, S E; Cournu-Rebeix, I; Fontaine, B; Martin, R (2014). A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Genes and immunity, 15(2):126-132.

مصطلحات موضوعية: Clinic for Neurology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/95750/1/Damotte_A_gene_pathway_analysis_.pdf; info:pmid/24430173; urn:issn:1466-4879

الاتاحة: https://www.zora.uzh.ch/id/eprint/95750/
https://www.zora.uzh.ch/id/eprint/95750/1/Damotte_A_gene_pathway_analysis_.pdf
https://doi.org/10.1038/gene.2013.70

المؤلفون: Lill, C., Schjejde, B., Graetz, C., Ban, M., Alcina, A., Ortiz, M., Pérez, J., Damotte, V., Booth, D., Lopez de Lapuente, A., Broer, L., Schilling, M., Akkad, D., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Blaschke, P., Buttmann, M., Chan, A., Compston, A., Cournu-Rebeix, I., Dörner, T., Epplen, J., Fernández, Ó., Gerdes, L., Guillot-Noël, L., Hartung, H., Hoffjan, S., Izquierdo, G., Kemppinen, A., Kroner, A., Kubisch, C., Kümpfel, T., Li, S., Lindenberger, U., Lohse, P., Lubetzki, C., Luessi, F., Malhotra, S., Mescheriakova, J., Montalban, X., Papeix, C., Paredes, L., Rieckmann, P., Steinhagen-Thiessen, E., Winkelmann, A., Zettl, U., Hintzen, R., Vandenbroeck, K., Stewart, G., Fontaine, B., Comabella, M., Urcelay, E., Matesanz, F., Sawcer, S., Bertram, L., Zipp, F.

المساهمون: International Multiple Sclerosis Genetics Consortium

المصدر: Brain

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-EAC7-C; http://hdl.handle.net/11858/00-001M-0000-0024-EAC9-8

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-EAC7-C
http://hdl.handle.net/11858/00-001M-0000-0024-EAC9-8

المؤلفون: Isobe, N, Damotte, V, Re, V, Ban, M, Pappas, D, Guillot-Noel, L, Rebeix, I, Compston, A, Mack, T, Cozen, W, Fontaine, B, Sawcer, S, Hauser, Stephen, Oksenberg, Jorge, Gourraud, Pierre-Antoine

المصدر: Genes and Immunity, vol 14, iss 7

مصطلحات موضوعية: Adult, Case-Control Studies, Female, Genetic Load, Genetic Loci, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Multiple Sclerosis, Pedigree, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

Relation: qt5456w9v2; https://escholarship.org/uc/item/5456w9v2

الاتاحة: https://escholarship.org/uc/item/5456w9v2

المؤلفون: Patsopoulos, Nikolaos A., Baranzini, Sergio E., McCabe, Cristin, Thorpe, J, Bradshaw, E, Caillier, SJ, Calabresi, P, Cree, BAC, Cross, A, Davis, M, de Bakker, PWI, Delgado, S, Dembele, M, Pers, Tune H., Edwards, K, Fitzgerald, K, Frohlich, IY, Gourraud, P-A, Haines, JL, Hakonarson, H, Kimbrough, D, Isobe, N, Konidari, I, Lathi, E, Brandes, Aaron, Lee, MH, Li, T, An, D, Zimmer, A, Madireddy, L, Manrique, CP, Mitrovic, M, Olah, M, Patrick, E, Pericak-Vance, MA, White, Charles, Piccio, L, Schaefer, C, Weiner, H, Lage, K, Scott, RJ, Lechner-Scott, J, Leal, R, Moscato, P, Booth, DR, Stewart, GJ, Keenan, Brendan, Vucic, S, Pame, G, BamettO, M, Mason, D, GriffithS, L, Broadley, S, Tajouri, L, Baxter, A, Slee, M, Taylor, BV, Cimpean, Maria, Charlesworth, J, Kilpatrick, TJ, Rubio, J, Jokubaitis, V, Wiley, J, Butzkueven, H, Leslie, S, Motyer, A, Stankovich, J, Carroll, WM, Winn, Phoebe, Kermode, AG, Edrin, M, Barclay, M, Peyrin-Biroulet, L, Chamaillard, M, Colombe, J-F, Cottone, M, Croft, A, D'Inca, R, Halfvarson, J, Panteliadis, Ioannis-Pavlos, Hanigan, K, Henderson, P, Hugot, J-P, Karban, A, Kennedy, NA, Khan, MA, Lemann, M, Levine, A, Massey, D, Milla, M, Robbins, Allison, Motoey, GW, Ng, SME, Oikonomnou, J, Peeters, H, Proctor, DD, Rahier, J-F, Roberts, R, Rutgeerts, P, Seibold, F, Stronati, L, Andlauer, Till F. M., Taylor, KM, Torkvist, L, Ublick, K, Van Limbergen, J, Van Gossum, A, Vatn, MH, Zhang, H, Zhang, W, Donnelly, P, Barroso, I, Santaniello, Adam, Zarzycki, Onigiusz, Blackwe, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Dubois, B, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Goris, A, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Sul, Z, Vukcevic, DA, Langford, C, Sondergaard, HB, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Sellebjerg, F, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Sorensen, PS, Compston, A, Hafler, D, Harbo, HF, Hauser, SL, Ullum, H, Stewart, G, D'Alfonso, S, Hadjigeorgiou, G, Taylor, B, Barcellos, LF, Booth, D, Hintzen, R, Kockum, I, Martinelli-Boneschi, F, McCauley, JL, Thorner, LW, Oksenberg, JR, Oturai, A, Sawcer, S, Ivinson, AJ, Olsson, T, De Jager, PL, Saarela, J., Cournu-Rebeix, I, Shoostari, Parisa, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusic, S, Berthele, A, Pongratz, V, Gasperi, C, Graetz, C, Cotsapas, Chris, Grummel, V, Hemmer, B, Hoshi, M, Knier, B, Korn, T, Lill, CM, Luessi, F, Muehlau, M, Zipp, F, Dardiotis, E, Wong, Garrett, Agliardi, C, Amoroso, A, Barizzone, N, Benedetti, MD, Bernardinelli, L, Cavalla, P, Clarelli, F, Comi, G, Cusi, D, Esposito, F, Beecham, Ashley H., Ferre, L, Galimberti, D, Guaschino, C, Leone, MA, Martinelli, V, Moiola, L, Salvetti, M, Sorosina, M, Vecchio, D, Zauli, A, James, Tojo, Santoro, S, Mancini, N, Zuccala, M, Mescheriakova, J, van Duijn, C, Bos, SD, Celius, EG, Spurkland, A, Comabella, M, Montalban, X, Replogle, Joseph, Alfredsson, L, Bomfim, IL, Gomez-Cabrero, D, Hillert, J, Jagodic, M, Linden, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Vlachos, Ioannis S., Baker, A, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Molyneux, P, Neville, M

المساهمون: The University of Newcastle. Faculty of Health & Medicine, School of Medicine and Public Health

مصطلحات موضوعية: multiple sclerosis (MS), genes, pathways, immune system

Relation: Science Vol. 365, Issue 6460, no. 1417; http://hdl.handle.net/1959.13/1461215; uon:46138

الاتاحة: http://hdl.handle.net/1959.13/1461215

المؤلفون: Mitrovi, M, Patsopoulos, NA, Beecham, AH, Dankowski, T, Goris, A, Dubois, B, D'hooghe, MB, Lemmens, R, Van Damme, P, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Werge, T, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusik, S, Gourraud, PA, Andlauer, TFM, Pongratz, V, Buck, D, Gasperi, C, Bayas, A, Heesen, C, Kumpfel, T, Linker, R, Paul, F, Stangel, M, Tackenberg, B, Bergh, FT, Warnke, C, Wiendl, H, Wildemann, B, Zettl, U, Ziemann, U, Tumani, H, Gold, R, Grummel, V, Hemmer, B, Knier, B, Lill, CM, Luessi, F, Dardiotis, E, Agliardi, C, Barizzone, N, Mascia, E, Bernardinelli, L, Comi, G, Cusi, D, Esposito, F, Ferre, L, Comi, C, Galimberti, D, Leone, MA, Sorosina, M, Mescheriakova, J, Hintzen, R, van Duijn, C, Theunissen, CE, Bos, SD, Myhr, K-M, Celius, EG, Lie, BA, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Stridh, P, Hillert, J, Jagodic, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Neville, M, Santaniello, A, Caillier, SJ, Calabresi, PA, Cree, BAC, Cross, A, Davis, MF, Haines, JL, de Bakker, PIW, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, KC, Hakonarson, H, Konidari, I, Lathi, E, Manrique, CP, Pericak-Vance, MA, Piccio, L, Schaefer, C, McCabe, C, Weiner, H, Goldstein, J, Olsson, T, Hadjigeorgiou, G, Taylor, B, Tajouri, L, Charlesworth, J, Booth, DR, Harbo, HF, Ivinson, AJ, Hauser, SL, Compston, A, Stewart, G, Zipp, F, Barcellos, LF, Baranzini, SE, Martinelli-Boneschi, F, D'Alfonso, S, Ziegler, A, Oturai, A, McCauley, JL, Sawcer, SJ, Oksenberg, JR, De Jager, PL, Kockum, I, Hafler, DA, Cotsapas, C

مصطلحات موضوعية: multiple sclerosis, genomics, rare variants, exome

Relation: Mitrovi, M, Patsopoulos, NA, Beecham, AH, Dankowski, T, Goris, A, Dubois, B, D'hooghe, MB, Lemmens, R, Van Damme, P, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Werge, T, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusik, S, Gourraud, PA, Andlauer, TFM, Pongratz, V, Buck, D, Gasperi, C, Bayas, A, Heesen, C, Kumpfel, T, Linker, R, Paul, F, Stangel, M, Tackenberg, B, Bergh, FT, Warnke, C, Wiendl, H, Wildemann, B, Zettl, U, Ziemann, U, Tumani, H, Gold, R, Grummel, V, Hemmer, B, Knier, B, Lill, CM, Luessi, F, Dardiotis, E, Agliardi, C, Barizzone, N, Mascia, E, Bernardinelli, L, Comi, G, Cusi, D, Esposito, F, Ferre, L, Comi, C, Galimberti, D, Leone, MA, Sorosina, M, Mescheriakova, J, Hintzen, R, van Duijn, C, Theunissen, CE, Bos, SD, Myhr, K-M, Celius, EG, Lie, BA, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Stridh, P, Hillert, J, Jagodic, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Neville, M, Santaniello, A, Caillier, SJ, Calabresi, PA, Cree, BAC, Cross, A, Davis, MF, Haines, JL, de Bakker, PIW, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, KC, Hakonarson, H, Konidari, I, Lathi, E, Manrique, CP, Pericak-Vance, MA, Piccio, L, Schaefer, C, McCabe, C, Weiner, H, Goldstein, J, Olsson, T, Hadjigeorgiou, G, Taylor, B, Tajouri, L, Charlesworth, J orcid:0000-0001-6201-3518 , Booth, DR, Harbo, HF, Ivinson, AJ, Hauser, SL, Compston, A, Stewart, G, Zipp, F, Barcellos, LF, Baranzini, SE, Martinelli-Boneschi, F, D'Alfonso, S, Ziegler, A, Oturai, A, McCauley, JL, Sawcer, SJ, Oksenberg, JR, De Jager, PL, Kockum, I, Hafler, DA and Cotsapas, C 2018 , 'Low-frequency and rare-coding variation contributes to multiple sclerosis risk' , Cell, vol. 175, no. 6 , pp. 1679-1687 , doi: https://doi.org/10.1016/j.cell.2018.09.049 .

الاتاحة: https://eprints.utas.edu.au/29152/

المؤلفون: Mitrovic, M, Patsopoulos, NA, Beecham, AH, Dankowski, T, Goris, A, Dubois, B, D'hooghe, MB, Lemmens, R, Van Damme, P, Sondergaard, HB, Sellebjerg, F, Sorensen, PS, Ullum, H, Thorner, LW, Werge, T, Saarela, J, Cournu-Rebeix, I, Damotte, V, Fontaine, B, Guillot-Noel, L, Lathrop, M, Vukusik, S, Gourraud, P-A, Andlauer, TFM, Pongratz, V, Buck, D, Gasperi, C, Bayas, A, Heesen, C, Kumpfel, T, Linker, R, Paul, F, Stangel, M, Tackenberg, B, Bergh, FT, Warnke, C, Wiendl, H, Wildemann, B, Zettl, U, Ziemann, U, Tumani, H, Gold, R, Grummel, V, Hemmer, B, Knier, B, Lill, CM, Luessi, F, Dardiotis, E, Agliardi, C, Barizzone, N, Mascia, E, Bernardinelli, L, Comi, G, Cusi, D, Esposito, F, Ferre, L, Comi, C, Galimberti, D, Leone, MA, Sorosina, M, Mescheriakova, J, Hintzen, R, van Duijn, C, Theunissen, CE, Bos, SD, Myhr, K-M, Celius, EG, Lie, BA, Spurkland, A, Comabella, M, Montalban, X, Alfredsson, L, Stridh, P, Hillert, J, Jagodic, M, Piehl, F, Jelcic, I, Martin, R, Sospedra, M, Ban, M, Hawkins, C, Hysi, P, Kalra, S, Karpe, F, Khadake, J, Lachance, G, Neville, M, Santaniello, A, Caillier, SJ, Calabresi, PA, Cree, BAC, Cross, A, Davis, MF, Haines, JL, de Bakker, PIW, Delgado, S, Dembele, M, Edwards, K, Fitzgerald, KC, Hakonarson, H, Konidari, I, Lathi, E, Manrique, CP, Pericak-Vance, MA, Piccio, L, Schaefer, C, McCabe, C, Weiner, H, Goldstein, J, Olsson, T, Hadjigeorgiou, G, Bruce Taylor, Tajouri, L, Jac Charlesworth, Booth, DR, Harbo, HF, Ivinson, AJ, Hauser, SL, Compston, A, Stewart, G, Zipp, F, Barcellos, LF, Baranzini, SE, Martinelli-Boneschi, F, D'Alfonso, S, Ziegler, A, Oturai, A, McCauley, JL, Sawcer, SJ, Oksenberg, JR, De Jager, PL, Kockum, I, Hafler, DA, Cotsapas, C

مصطلحات موضوعية: Gene mapping, Genomics, Neurogenetics, multiple sclerosis, rare variants, exome

Relation: 102.100.100/560409; https://figshare.com/articles/journal_contribution/Low-frequency_and_rare-coding_variation_contributes_to_multiple_sclerosis_risk/22975328

الاتاحة: https://figshare.com/articles/journal_contribution/Low-frequency_and_rare-coding_variation_contributes_to_multiple_sclerosis_risk/22975328