المؤلفون: Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. El, Spitz, M.A., Piton, A., Gerard, B., bi Warde, M.T. A, Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R.P., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M.

المصدر: Molecular Psychiatry; 668; 697; 1359-4184; 2; 28; ~Molecular Psychiatry~668~697~~~1359-4184~2~28~~

URL: https://repository.ubn.ru.nl/handle/2066/290784

المؤلفون: Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C., Deciphering Dev Disorder Study

المصدر: Genetics in Medicine

مصطلحات موضوعية: autism, developmental delay, intellectual disability, epilepsy, missense variants

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub; lumc-id: 112023180; https://hdl.handle.net/1887/3184942

الاتاحة: https://hdl.handle.net/1887/3184942
https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub
https://doi.org/10.1038/s41436-019-0657-0

المؤلفون: Chehadeh, S. El, Kerstjens-Frederikse, W.S., Thevenon, J., Kuentz, P., Bruel, A.L., Thauvin-Robinet, C., Bensignor, C., Dollfus, H., Laugel, V., Riviere, J.B., Duffourd, Y., Bonnet, C., Robert, M.P., Isaiko, R., Straub, M., Creuzot-Garcher, C., Calvas, P., Chassaing, N., Loeys, B., Reyniers, E., Vandeweyer, G., Kooy, F., Hancarova, M., Havlovicova, M., Prchalova, D., Sedlacek, Z., Gilissen, C.F., Pfundt, R.P., Wassink-Ruiter, J.S., Faivre, L.

المصدر: European Journal of Human Genetics, 25, 1, pp. 43-51

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/167742; https://doi.org/10.1038/ejhg.2016.133

الاتاحة: http://hdl.handle.net/2066/167742
https://doi.org/10.1038/ejhg.2016.133

المؤلفون: Bourchany, A., Giurgea, I., Thevenon, J., Goldenberg, A., Morin, G., Bremond-Gignac, D., Paillot, C., Lafontaine, P. O., Thouvenin, D., Massy, J., Duncombe, A., Thauvin-Robinet, C., Masurel-Paulet, A., Chehadeh, S. El, Huet, F., Bron, Alain, M., Creuzot Garcher, Catherine, Lyonnet, S., Faivre, L.

المساهمون: Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs

Relation: info:eu-repo/semantics/altIdentifier/pmid/25899569; hal-02636934; https://hal.inrae.fr/hal-02636934; PRODINRA: 456054; PUBMED: 25899569; WOS: 000356676200071

الاتاحة: https://hal.inrae.fr/hal-02636934
https://doi.org/10.1002/ajmg.a.36898