المؤلفون: van der Zanden L. F. M., van Rooij I. A. L. M., Quaedackers J. S. L. T., Nijman R. J. M., Steffens M., de Wall L. L. L., Bongers E. M. H. F., Schaefer F., Kirchner M., Behnisch R., Bayazit A. K., Caliskan S., Obrycki L., Montini G., Duzova A., Wuttke M., Jennings R., Hanley N. A., Milmoe N. J., Winyard P. J. D., Renkema K. Y., Schreuder M. F., Roeleveld N., Feitz W. F. J.

المساهمون: L.F.M. van der Zanden, I.A.L.M. van Rooij, J.S.L.T. Quaedacker, R.J.M. Nijman, M. Steffen, L.L.L. de Wall, E.M.H.F. Bonger, F. Schaefer, M. Kirchner, R. Behnisch, A.K. Bayazit, S. Caliskan, L. Obrycki, G. Montini, A. Duzova, M. Wuttke, R. Jenning, N.A. Hanley, N.J. Milmoe, P.J.D. Winyard, K.Y. Renkema, M.F. Schreuder, N. Roeleveld, W.F.J. Feitz

مصطلحات موضوعية: CDH12, Genome-wide association study, Obstructive uropathy, Posterior urethral valves, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/34337522; info:eu-repo/semantics/altIdentifier/wos/WOS:000651226600004; volume:28; firstpage:26; lastpage:35; numberofpages:10; journal:EUROPEAN UROLOGY OPEN SCIENCE; http://hdl.handle.net/2434/877631; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104620832

الاتاحة: http://hdl.handle.net/2434/877631
https://doi.org/10.1016/j.euros.2021.04.001

المؤلفون: Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.

المصدر: Polla , D L , Bhoj , E J , Verheij , J B G M , Wassink-Ruiter , J S K , Reis , A , Deshpande , C , Gregor , A , Hill-Karfe , K , Vulto-van Silfhout , A T , Pfundt , R , Bongers , E M H F , Hakonarson , H , Berland , S , Gradek , G , Banka , S , Chandler , K , Gompertz , L , Huffels , S C , Stumpel , C T R M , Wennekes , R , Stegmann , A ....

مصطلحات موضوعية: FG SYNDROME, MENTAL-RETARDATION, MEDIATOR COMPLEX, OHDO SYNDROME, MUTATION, BLEPHAROPHIMOSIS, GENE, TRANSCRIPTION, DELINEATION, PHENOTYPE

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a2d99058-119a-41c1-9bb4-9aaf9783c686
https://doi.org/10.1038/s41436-020-01040-6

المؤلفون: van Leersum, F. S., Seyger, M. M. B., Theunissen, T. E. J., Bongers, E. M. H. F., Steijlen, P. M., van Geel, M.

المصدر: van Leersum , F S , Seyger , M M B , Theunissen , T E J , Bongers , E M H F , Steijlen , P M & van Geel , M 2020 , ' Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma ' , British Journal of Dermatology , vol. 182 , no. 1 , pp. 208-211 . https://doi.org/10.1111/bjd.18216

مصطلحات موضوعية: HARLEQUIN ICHTHYOSIS, SKIN, MUTATIONS, UNDERLIE, PATTERNS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/3e66f97f-a0be-4c0e-9216-61f6fbaeb1f5
https://doi.org/10.1111/bjd.18216

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, 4

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), Talkowski, M.E. (Michael E.)

المصدر: Nature Genetics vol. 49 no. 1, pp. 36-45

Relation: http://repub.eur.nl/pub/108340; urn:hdl:1765/108340

الاتاحة: http://repub.eur.nl/pub/108340
https://doi.org/10.1038/ng.3720

المؤلفون: Van Der Vlugt, M. (Manon), Grobbee, E.J. (Esmée J.), Bossuyt, P.M.M. (Patrick), Bongers, E. (Evelien), Spijker, W. (Wolfert), Kuipers, E.J. (Ernst), Lansdorp-Vogelaar, I. (Iris), Essink-Bot, M.L.E. (Marie-Louise), Spaander, M.C.W. (Manon), Dekker, E. (Evelien)

المصدر: British Journal of Cancer vol. 116 no. 1, pp. 44-49

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/106585; urn:hdl:1765/106585

الاتاحة: http://repub.eur.nl/pub/106585
https://doi.org/10.1038/bjc.2016.399

المؤلفون: de Ruiter, Julianne Cynthia, van Diessen, Judi Nani Annet, Smit, Egbert Frederik, van der Noort, Vincent, Damhuis, Ronald Alphons Maria, Hartemink, Koen Johan, Bongers, E M, Braun, J, Bussink, J, Dielwart, M F H, Ghamati, M, de Groot, M A, Hugen, N, Hutteman, M, Hüyük, M, IJgosse, W M, Klomp, H M, Maat, A P W M, Mali, R, Marquenie, N, Marres, G M H, Martina, B G, Mens, D M, Oosterhuis, J W A, Susa, D, van Thiel, E, Veen, E J, Veenhof, A A F A, Verbogt, N P A, Verhagen, A F T M, van der, N C M G, van Zyp, Voort, de Wee, E M

المصدر: European Journal of Cardio-Thoracic Surgery ; volume 62, issue 3 ; ISSN 1010-7940 1873-734X

الاتاحة: https://doi.org/10.1093/ejcts/ezac118
https://academic.oup.com/ejcts/article-pdf/62/3/ezac118/45611908/ezac118.pdf

المؤلفون: Pietilä, I. (Ilkka), Prunskaite-Hyyryläinen, R. (Renata), Kaisto, S. (Susanna), Tika, E. (Elisavet), van Eerde, A. M. (Albertien M.), Salo, A. M. (Antti M.), Garma, L. (Leonardo), Miinalainen, I. (Ilkka), Feitz, W. F. (Wout F.), Bongers, E. M. (Ernie M. H. F.), Juffer, A. (André), Knoers, N. V. (Nine V. A. M.), Renkema, K. Y. (Kirsten Y.), Myllyharju, J. (Johanna), Vainio, S. J. (Seppo J.)

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7/305608/EU/European Consortium for High-Throughput Research in Rare Kidney Diseases/EURENOMICS

الاتاحة: http://urn.fi/urn:nbn:fi-fe2020050825786

المؤلفون: Tekatli, H., Haasbeek, N., Dahele, M., Haan, P. de, Verbakel, W., Bongers, E., Hashemi, S., Nossent, E., Slotman, B., Senan, S.

المصدر: Journal of Thoracic Oncology ; volume 11, issue 4, page S106-S107 ; ISSN 1556-0864

الاتاحة: http://dx.doi.org/10.1016/s1556-0864(16)30229-5
https://api.elsevier.com/content/article/PII:S1556086416302295?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1556086416302295?httpAccept=text/xml

المؤلفون: Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., Knoers, N.

المساهمون: Genetica Klinische Genetica, Nefrologie, Child Health, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, CMM, Circulatory Health, Brain, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica Groep Van Tintelen, Genetica

مصطلحات موضوعية: Cell Biology

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/342594

الاتاحة: https://dspace.library.uu.nl/handle/1874/342594

المؤلفون: Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E

المصدر: Cilia ; volume 4, issue S1 ; ISSN 2046-2530

الاتاحة: http://dx.doi.org/10.1186/2046-2530-4-s1-p53
http://link.springer.com/content/pdf/10.1186/2046-2530-4-S1-P53.pdf

المؤلفون: Stokman, M, Oud, M, Reeuwijk, J Van, Lilien, M, De Kar, N Van, Nijman, I, Gilissen, C, Kroes, HY, Bongers, E, Geijsen, N, Kamsteeg, E, Cuppen, E, Roepman, R, Giles, R, Renkema, K, Arts, H, Knoers, N

المصدر: Cilia ; volume 4, issue S1 ; ISSN 2046-2530

الاتاحة: http://dx.doi.org/10.1186/2046-2530-4-s1-p50
http://link.springer.com/content/pdf/10.1186/2046-2530-4-S1-P50.pdf

المؤلفون: Stegeman, I., van Doorn, S.C., Mundt, M.W., Mallant-Hent, R.C., Bongers, E., Elferink, M.A.G., Fockens, P., Stroobants, A.K., Bossuyt, P.M., Dekker, E.

المساهمون: Research and Development, Ministry of Health

المصدر: Cancer Epidemiology ; volume 39, issue 3, page 388-393 ; ISSN 1877-7821

الاتاحة: http://dx.doi.org/10.1016/j.canep.2015.03.012
https://api.elsevier.com/content/article/PII:S187778211500079X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S187778211500079X?httpAccept=text/plain

المؤلفون: Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E (Ernie), Brunner, H, Feingold, M, Boycott, KM

المصدر: Nikkel , SM , Dauber , A , de Munnik , S , Connolly , M , Hood , RL , Caluseriu , O , Hurst , J , Kini , U , Nowaczyk , MJM , Afenjar , A , Albrecht , B , Allanson , JE , Balestri , P , Ben-Omran , T , Brancati , F , Cordeiro , I , da Cunha , BS , Delaney , LA , Destree , A , FitzPatrick , D , Forzano , F , Ghali , N , Gillies , G , Harwood , K , Hendriks ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/2cd4c3c3-34fb-457c-aa07-bb70b282bae3
https://doi.org/10.1186/1750-1172-8-63
https://pure.eur.nl/ws/files/47533719/REPUB_60619_OA.pdf
http://hdl.handle.net/1765/60619

المؤلفون: Verbakel, W.F.A.R., Bongers, E., Botticella, A., Warner, A., Palma, D.A., Haasbeek, C.J.A., Slotman, B.J., Ricardi, U., Senan, S.

المصدر: Radiotherapy and Oncology ; volume 106, page S37 ; ISSN 0167-8140

الاتاحة: http://dx.doi.org/10.1016/s0167-8140(15)32401-4
https://api.elsevier.com/content/article/PII:S0167814015324014?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0167814015324014?httpAccept=text/plain

المؤلفون: Losekoot, M, Ruivenkamp, C A L, Tholens, A P, Grimbergen, J E M A, Vijfhuizen, L, Vermeer, S, Dijkman, H B, Cornelissen, E A M, Bongers, E M H F, Peters, D J M

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/49/1/37; http://dx.doi.org/10.1136/jmedgenet-2011-100452

الاتاحة: http://jmg.bmj.com/cgi/content/short/49/1/37
https://doi.org/10.1136/jmedgenet-2011-100452

المؤلفون: Houweling, A.C. (Arjan), Gijezen, L.M. (L.), Jonker, M.A. (Marianne), Doorn, M.B.A. (Martijn) van, Oldenburg, R.A. (Rogier), Spaendonck-Zwarts, K.Y. (Karin) van, Leter, E.M. (Edward), Os, T.A.M. (Theo) van, Grieken, N.C.T. (Nicole), Jaspars, J.J. (Joris), Jong, M.M. (Mirjam) de, Bongers, E. (Ernie), Johannesma, P.C. (P.), Postmus, D. (Douwe), Moorselaar, R.J.A. van, Waesberghe, J-H.T.M. (Jan-Hein) van, Starink, T.M., Steensel, M.A.M. van, Gille, J.J. (Johan), Menko, F. (Fred)

المصدر: British Journal of Cancer vol. 105 no. 12, pp. 1912-1919

مصطلحات موضوعية: Birt-Hogg-Dubé syndrome, Discoid fibroma, Fibrofolliculoma, Folliculin, Pneumothorax, Renal cancer

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/67799; urn:hdl:1765/67799

الاتاحة: http://repub.eur.nl/pub/67799
https://doi.org/10.1038/bjc.2011.463

المؤلفون: Renkema, K. Y., Winyard, P. J., Skovorodkin, I. N., Levtchenko, E., Hindryckx, A., Jeanpierre, C., Weber, S., Salomon, R., Antignac, C., Vainio, S., Schedl, A., Schaefer, F., Knoers, N. V. A. M., Bongers, E. M. H. F.

المصدر: Nephrology Dialysis Transplantation ; volume 26, issue 12, page 3843-3851 ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gfr655
http://academic.oup.com/ndt/article-pdf/26/12/3843/7637364/gfr655.pdf

المؤلفون: Bentum, M.J., Boonstra, A.J., Verhoeven, C.J.M., Veen, A.J. van der, Gill, E.K.A., Saks, N., Falcke, H., Klein-Wolt, M., Rajan, R.T., Wijnholds, S.J., Arts, M., Klooster, K. van 't, Beliën, F., Meijerink, A., Monna, B., Rotteveel, J., Boer, M.A., Bongers, E., Boom, E., Tuijl, E. van, Staveren, A. van

وصف الملف: application/pdf

Relation: http://doc.utwente.nl/75278/1/SoC_abstract_OLFAR.pdf; http://purl.utwente.nl/publications/75278

الاتاحة: http://purl.utwente.nl/publications/75278

المؤلفون: Bentum, M.J., Boonstra, A.J., Verhoeven, C.J.M., Veen, A.J. van der, Gill, E.K.A., Saks, N., Falcke, H., Klein-Wolt, M., Rajan, R.T., Wijnholds, S.J., Arts, M., Klooster, K. van 't, Beliën, F., Meijerink, A., Monna, B., Rotteveel, J., Boer, M.A., Bongers, E., Boom, E., Tuijl, E. van, Staveren, A. van

وصف الملف: application/pdf

Relation: http://doc.utwente.nl/75268/1/COSPAR_abstract_OLFAR.pdf; http://purl.utwente.nl/publications/75268

الاتاحة: http://purl.utwente.nl/publications/75268