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1دورية أكاديمية
المؤلفون: Delanne, J., Nambot, S., Chassagne, A., Putois, O., Pelissier, A., Peyron, C., Gautier, E., Thevenon, J., Cretin, E., Bruel, A.L., Goussot, V., Ghiringhelli, F., Boidot, R., Tran Mau-Them, F., Philippe, C., Vitobello, A., Demougeot, L., Vernin, C., Lapointe, A.S., Bardou, M., Luu, M., Binquet, C., Lejeune, C., Joly, L., Juif, C., Baurand, A., Sawka, C., Bertolone, G., Duffourd, Y., Sanlaville, D., Pujol, P., Geneviève, D., Houdayer, F., Thauvin-Robinet, C., Faivre, L.
المصدر: In European Journal of Medical Genetics June 2019 62(6)
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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
https://doi.org/10.1016/j.ajhg.2023.04.008 -
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المؤلفون: Schirwani, S., Albaba, S., Carere, D.A., Sacoto, M.J. Guillen, Zamora, F. Milan, Si, Y., Rabin, R., Pappas, J., Renaud, D.L., Hauser, N., Reid, E., Blanchet, P., Foulds, N., Dixit, A., Fisher, R., Armstrong, R., Isidor, B., Cogne, B., Vergano, S. Schrier, Demirdas, S., Dykzeul, N., Cohen, J.S., Grand, K., Morel, D., Slavotinek, A., Albassam, H.F., Naik, S., Dean, J., Ragge, N., Cinzia, C., Tedesco, M.G., Harrison, R.E., Bouman, A., Palen, E., Challman, T.D., Willemsen, M.H., Vogt, J., Cunniff, C., Bergstrom, K., Walia, J.S., Bruel, A.L., Kini, U., Alkuraya, F.S., Slegesky, V., Meeks, N., Girotto, P., Johnson, D., Newbury-Ecob, R., Ockeloen, C.W., Prontera, P., Lynch, S.A., Li, D., Graham, J.M., Balasubramanian, M.
المساهمون: Clinical Genetics
المصدر: American Journal of Medical Genetics, Part A, 185(11), 3446-3458. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 3446-3458
American Journal of Medical Genetics. Part A, 185, 11, pp. 3446-3458مصطلحات موضوعية: Adult, Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Adolescent, Hypertelorism, Developmental Disabilities, speech impairment, Genetic Variation, ASXL3, BRPS, Young Adult, Phenotype, ASXL3-related syndrome, Bainbridge–Ropers syndrome, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, Mutation, Humans, Muscle Hypotonia, Female, Genetic Predisposition to Disease, Child, Transcription Factors
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4دورية أكاديمية
المؤلفون: Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L.
المصدر: Clinical Genetics; Aug2017, Vol. 92 Issue 2, p188-198, 11p, 2 Color Photographs, 2 Diagrams, 2 Charts
مصطلحات موضوعية: GROWTH factors, MITOCHONDRIAL pathology, EXOMES, MUSCLE diseases, HOMOZYGOSITY, RARE diseases
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5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.