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المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 110(6), 963-978. Cell Press
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143c733f6eac531e487435c91e46cb2
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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.
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Specialisten (9)
المصدر: European Journal of Pediatrics, 182, 2683-2692
European Journal of Pediatrics, 182, 6, pp. 2683-2692
European Journal of Pediatrics. Springer, Chamمصطلحات موضوعية: Diagnostic workflow, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rapid exome sequencing, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Neonates, Clinical utility, Economic evaluation, COSTS
وصف الملف: application/pdf
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المؤلفون: Oud, M.S., Smits, R.M., Smith, H.E., Mastrorosa, F.K., Holt, G.S., Houston, B.J., de Vries, P.F., Alobaidi, B.K.S., Batty, L.E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G.D.N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D.D.M., Fleischer, K., D’Hauwers, K.W.M., Schaafsma, E., Conrad, Donald F., Nagirnaja, Liina, Aston, Kenneth I., Carrell, Douglas T., Hotaling, James M., Jenkins, Timothy G., McLachlan, Rob, O’Bryan, Moira K., Schlegel, Peter N., Eisenberg, Michael L., Sandlow, Jay I., Jungheim, Emily S., Omurtag, Kenan R., Lopes, Alexandra M., Seixas, Susana, Carvalho, Filipa, Fernandes, Susana, Barros, Alberto, Gonçalves, João, Caetano, Iris, Pinto, Graça, Correia, Sónia, Laan, Maris, Punab, Margus, Meyts, Ewa Rajpert-De, Jørgensen, Niels, Almstrup, Kristian, Krausz, Csilla G., Jarvi, Keith A., Nagirnaja, L., Conrad, D.F., Friedrich, C., Kliesch, S., Aston, K.I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L.E.L.M., Tüttelmann, F., O’Bryan, M.K., Ramos, L., Xavier, M.J., van der Heijden, G.W., Veltman, J.A.
المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centre for Toxicogenomics and Human Health (ToxOmics)
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications, 13
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Nature Communications, 13, 1مصطلحات موضوعية: Male, Chemistry(all), Gene Expression, General Physics and Astronomy, Cell Cycle Proteins, Bioinformatics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Male infertility, Loss of Function Mutation, Medicine, Exome, DNA sequencing, Azoospermia, Multidisciplinary, Disease genetics, RNA-Binding Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Infertile Man, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], DNA-Binding Proteins, Adult, Science, Mutation, Missense, Genética Humana, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Physics and Astronomy(all), Article, General Biochemistry, Genetics and Molecular Biology, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Text mining, Exome Sequencing, Humans, Male Infertility, Genetic Predisposition to Disease, Spermatogenesis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Biochemistry, Genetics and Molecular Biology(all), Gene Expression Profiling, Tumor Suppressor Proteins, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Oligospermia, General Chemistry, medicine.disease, Doenças Genéticas, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Case-Control Studies, Infertility, business
وصف الملف: application/pdf
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المؤلفون: Dingemans, A.J.M., Hinne, M., Jansen, S, Reeuwijk, J. van, Leeuw, N. de, Pfundt, R.P., Bon, B.W.M. van, Vulto-van Silfhout, A.T., Kleefstra, T., Koolen, D.A., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, L.B.A. de
المصدر: European Journal of Human Genetics, 30, 506
European Journal of Human Genetics, 30, 1, pp. 506مصطلحات موضوعية: Cognitive artificial intelligence
وصف الملف: application/pdf