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1Academic Journal
المؤلفون: Souche, E, Beltran, S, Brosens, E, Belmont, JW, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M, de Leeuw, N, Deans, ZC, Dincer, Y, Eck, SH, Crabben, SV, Balasubramanian, M, Graessner, H, Sturm, M, Firth, H, Ferlini, A, Nabbout, R, De Baere, E, Liehr, T, Macek, M, Matthijs, G, Scheffer, H, Bauer, P, Yntema, HG, Weiss, MM
المصدر: European journal of human genetics : EJHG. 30(10):1017-1021
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Baardman, R, Lemmink, H H, Yenamandra, V K, Commandeur-Jan, S Z, Viel, M, Kooi, K A, Diercks, G F H, Meijer, R, van Geel, M, Scheffer, H, Sinke, R J, Sikkema-Raddatz, B, Bolling, M C, van den Akker, P C
المصدر: Baardman , R , Lemmink , H H , Yenamandra , V K , Commandeur-Jan , S Z , Viel , M , Kooi , K A , Diercks , G F H , Meijer , R , van Geel , M , Scheffer , H , Sinke , R J , Sikkema-Raddatz , B , Bolling , M C & van den Akker , P C 2025 , ' Evolution of genome diagnostics in epidermolysis bullosa : Unveiling the power of next-generation sequencing ' , Journal of the European Academy of Dermatology and Venereology , vol. 39 , ....
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/c1d35475-3f91-4136-8036-30c905abdc92
https://research.rug.nl/en/publications/c1d35475-3f91-4136-8036-30c905abdc92
https://doi.org/10.1111/jdv.19938
https://pure.rug.nl/ws/files/1189676352/Acad_Dermatol_Venereol_-_2024_-_Baardman_-_Evolution_of_genome_diagnostics_in_epidermolysis_bullosa_Unveiling_the_power_of.pdf -
3Academic Journal
المؤلفون: Mirkov, MU, Cui, J, Vermeulen, SH, Stahl, EA, Toonen, EJM, Makkinje, RR, Lee, AT, Huizinga, TWJ, Allaart, R, Barton, A, Mariette, X, Miceli, CR, Criswell, LA, Tak, PP, de Vries, N, Saevarsdottir, S, Padyukov, L, Bridges, SL, van Schaardenburg, DJ, Jansen, TL, Dutmer, EAJ, de Laar, MAFJV, Barrera, P, Radstake, TRDJ, van Riel, PLCM, Scheffer, H, Franke, B, Brunner, HG, Plenge, RM, Gregersen, PK, Guchelaar, HJ, Coenen, MJH
المصدر: Annals of the rheumatic diseases. 72(8):1375-1381
مصطلحات موضوعية: Medicin och hälsovetenskap
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4Academic Journal
المؤلفون: van Es, MA, Schelhaas, HJ, van Vught, PWJ, Ticozzi, N, Andersen, PM, Groen, EJN, Schulte, C, Blauw, HM, Koppers, M, Diekstra, FP, Fumoto, K, LeClerc, AL, Keagle, P, Bloem, BR, Scheffer, H, van Nuenen, BFL, van Blitterswijk, M, van Rheenen, W, Wills, AM, Lowe, PP, Hu, GF, Yu, WH, Kishikawa, H, Wu, D, Folkerth, RD, Mariani, C, Goldwurm, S, Pezzoli, G, Van Damme, P, Lemmens, R, Dahlberg, C, Birve, A, Fernandez-Santiago, R, Waibel, S, Klein, C, Weber, M, van der Kooi, AJ, de Visser, M, Verbaan, D, van Hilten, JJ, Heutink, P, Hennekam, EAM, Cuppen, E, Berg, D, Brown, RH, Silani, V, Gasser, T, Ludolph, AC, Robberecht, W, Ophoff, RA, Veldink, JH, Pasterkamp, RJ, de Bakker, PIW, Landers, JE, van de Warrenburg, BP, van den Berg, LH
المصدر: Annals of neurology. 70(6):964-973
مصطلحات موضوعية: Medicin och hälsovetenskap
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5Academic Journal
المؤلفون: Baardman, R., Lemmink, H. H., Yenamandra, V. K., Commandeur‐Jan, S. Z., Viel, M., Kooi, K. A., Diercks, G. F. H., Meijer, R., van Geel, M., Scheffer, H., Sinke, R. J., Sikkema‐Raddatz, B., Bolling, M. C., van den Akker, P. C.
المصدر: Journal of the European Academy of Dermatology & Venereology; Jan2025, Vol. 39 Issue 1, p154-160, 7p
مصطلحات موضوعية: TURNAROUND time, EPIDERMOLYSIS bullosa, GENETIC disorder diagnosis, GENETIC variation, TIME management
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6Academic Journal
المؤلفون: Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L.S., Sinke, R.J., Pfundt, R., Stevens, S.J.C., Andriessen, P., van Lingen, R.A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., van Amstel, H.K.P., de Boode, W.P., van Zelst-Stams, W.A.G., Frederix, G.W.J., Vissers, L.E.L.M., DE Koning, Bart, van den Wijngaard, Arthur, Sinnema, Margje, Stegmann, Alexander, Brunner La Rocca, Hans-Peter
المصدر: Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode ....
مصطلحات موضوعية: Diagnostic workflow, Neonates, Economic evaluation, Clinical utility, Rapid exome sequencing, COSTS
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7Academic Journal
المؤلفون: Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C, Haider, Z, Ryan, G, Holden, S, Harrison, M, Burrows, N, Jones, WD, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Brown, MA, Caulfield, MJ, Chan, GC, Giess, A, Griffin, JN, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O‘Donovan, P, Odhams, CA, Patch, C, Perez-Gil, D, Pereira, MB, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Riess, O, Haack, TB, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, JM, Schüle, R, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N
المصدر: Human Genetics and Genomics Advances , 4 (2) , Article 100186. (2023)
مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, zebrafish fin regeneration, Extracellular matrix dependant signalling, Closca, Autosomal recessive ectodermal dysplasia type 14
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/10174155/1/1-s2.0-S2666247723000180-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10174155/
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8Academic Journal
المؤلفون: Souche, E., Beltran, S., Brosens, E., Belmont, J.W., Fossum, M., Riess, O., Gilissen, C., Ardeshirdavani, A., Houge, G., van Gijn, M., Clayton-Smith, J., Synofzik, M., de Leeuw, N., Deans, Z.C., Dincer, Y., Eck, S.H., van der Crabben, S., Balasubramanian, M., Graessner, H., Sturm, M., Firth, H., Ferlini, A., Nabbout, R., De Baere, E., Liehr, T., Macek, M., Matthijs, G., Scheffer, H., Bauer, P., Yntema, H.G., Weiss, M.M.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/187457/6/s41431-022-01113-x.pdf; Souche, E., Beltran, S., Brosens, E. et al. (28 more authors) (2022) Recommendations for whole genome sequencing in diagnostics for rare diseases. European Journal of Human Genetics, 30 (9). pp. 1017-1021. ISSN 1018-4813
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9Academic Journal
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
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10Academic Journal
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
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11Academic Journal
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
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12Academic Journal
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
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13Academic Journal
المؤلفون: Puijk, R., Bemd, B., Nieuwenhuizen, S., Ruarus, A., Vroomen, L., Jong, M., Geboers, B., Vries, J., Tol, P., Scheffer, H., Meijerink, M.
المصدر: Journal of Vascular and Interventional Radiology ; volume 31, issue 3, page S22 ; ISSN 1051-0443
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14
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: Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), 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., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
المصدر: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4مصطلحات موضوعية: Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Broekman, M M T J, Wong, D R, Wanten, G J A, Roelofs, H M, van Marrewijk, C J, Klungel, O H, Verbeek, A L M, Hooymans, P M, Guchelaar, H-J, Scheffer, H, Derijks, L J J, Coenen, M J H, de Jong, D J
المساهمون: Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP - Centre for Pharmacoepidemiology
مصطلحات موضوعية: Taverne
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Coenen, MJH, Enevold, C, Barrera, P, Schijvenaars, MMVAP, Toonen, EJM, Scheffer, H, Padyukov, L, Kastbom, A, Klareskog, L, Barton, A, Kievit, W, Rood, MJ, Jansen, TL, Swinkels, D, van Riel, PLCM, Franke, B, Bendtzen, K, Radstake, TRDJ
المصدر: PloS one. 5(12):e14326
مصطلحات موضوعية: Medicin och hälsovetenskap
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17Academic Journal
المؤلفون: Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM, Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P, Hernandez DG, Arepalli S, Brooks J, Price R, Nicolas A, Chong S, Cookson MR, Dillman A, Moore M, Traynor BJ, Singleton, Plagnol V, Wood NW, Sheerin U-M, Bras JM, Charlesworth G, Gardner M, Guerreiro R, Trabzuni D, Hardy J, Sharma M, Saad M, Schulte C, Corvol JC, Durr A, Vidailhet M, Sveinbjornsdottir S, Barker R, Williams-Gray CH, Ben-Shlomo Y, Berendse HW, van Dijk KD, Berg D, Brockmann K, Wurster I, Matzler W, Gasser T, Martinez M, de Bie RMA, Biffi A, Velseboer D, Bloem B, Post B, Wickremaratchi M, van de Warrenburg B, Bochdanovits Z, Bonin M, Petursson H, Riess O, Burn DJ, Lubbe S, Cooper JM, McNeill A, Schapira A, Lungu C, Chen H, Dong J, Chinnery PF, Hudson G, Clarke CE, Moorby C, Counsell C, Damier P, Dartigues J-F, Deloukas P, Gray E, Edkins S, Hunt SE, Potter S, Tashakkori-Ghanbaria A, Deuschl G, Lorenz D, Dexter DT, Durif F, Evans JR, Langford C, Foltynie T, Goate A, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang X, Illig T, Jonsson PV, Lambert J-C, O'Sullivan SS, Revesz T, Shaw K, Lees A, Lichtner P, Limousin P, Lopez G, Escott-Price V, Pearson J, Williams N, Mudanohwo E, Perlmutter JS, Pollak P, Rivadeneira F, Uitterlinden AG, Sawcer S, Scheffer H, Shoulson I, Shulman J, Smith C, Walker R, Spencer CCA, Strange A, Stefansson H, Bettella F, Stefansson K, Stockton JD, Talbot K, Tanner CM, Tison F, Winder-Rhodes S, Bhatia K
المصدر: Genome Biology, 30 January 2017
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/236822; https://eprints.ncl.ac.uk/fulltext.aspx?url=236822/169BFBAE-E1C1-419F-8237-308182F1D2EB.pdf&pub_id=236822
الاتاحة: https://eprints.ncl.ac.uk/236822
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18Academic Journal
المؤلفون: Broekman, M M T J, Coenen, Marieke J H, Wanten, Geert J A, van Marrewijk, C. J., Klungel, O. H., Verbeek, A. L.M., Hooymans, Piet M, Guchelaar, H.J., Scheffer, H., Derijks, Luc J J, Wong, Dennis R, de Jong, D. J.
المساهمون: Afd Pharmacoepi & Clinical Pharmacology, Pharmacoepidemiology and Clinical Pharmacology, PECP - Centre for Pharmacoepidemiology
مصطلحات موضوعية: Pharmacology (medical)
وصف الملف: image/pdf
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19Academic Journal
المؤلفون: Seco, C.Z. (Celia Zazo), Wesdorp, M. (Mieke), Feenstra, I. (Ilse), Pfundt, R. (Rolph), Hehir-Kwa, J. (Jayne), Lelieveld, S.H. (Stefan H.), Castelein, S. (Steven), Gilissen, C. (Christian), Wijs, I.J. (Ilse) de, Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Kunst, H.P.M. (Henricus P.M.), van de Kamp, J.M. (Jiddeke M.), Tamminga, S. (Saskia), Houweling, A.C. (Arjan), Plomp, A. (Astrid), Maas, S.M. (Saskia), de Koning Gans, P.A.M. (P. A M), Kant, S.G. (Sarina), De Geus, C.M. (Christa M.), Frints, S.G.M. (Suzanna), Vanhoutte, E.K. (Els), Dooren, M.F. (Marieke) van, Boogaard, M.H. (Marie-José Henriëtte) van den, Scheffer, H. (Hans), Nelen, M.R. (Marcel), Kremer, H. (Hannie), Hoefsloot, E.H. (Lies), Schraders, M. (Margit), Yntema, H.G.
المصدر: European Journal of Human Genetics vol. 25 no. 3, pp. 308-314
Relation: http://repub.eur.nl/pub/108265; urn:hdl:1765/108265
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20Academic Journal
المؤلفون: Haer-Wigman, L, van Zelst-Stams, W A G, Pfundt, R, van den Born, LI, Klaver, Caroline, Verheij, J, Hoyng, CB, Breuning, MH, Boon, CJF, Kievit, Anneke, Verhoeven, Virginie, Pott, JWR, Sallevelt, S, van Hagen, JM, Plomp, AS, Kroes, HY, Lelieveld, SH, Hehir-Kwa, JY, Castelein, S, Nelen, M, Scheffer, H, Lugtenberg, D, Cremers, FPM, Hoefsloot, EH, Yntema, HG
المصدر: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , LI , Klaver , C , Verheij , J , Hoyng , CB , Breuning , MH , Boon , CJF , Kievit , A , Verhoeven , V , Pott , JWR , Sallevelt , S , van Hagen , JM , Plomp , AS , Kroes , HY , Lelieveld , SH , Hehir-Kwa , JY , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , FPM , Hoefsloot ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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