المؤلفون: Lehman, S. (Sanaz), Thouta, S. (Samrat), Mancini, G.M.S. (Grazia), Naidu, S. (Sakkubai), Slegtenhorst, M.A. (Marjon) van, McWalter, K. (Kirsty), Person, R. (Rick), Mwenifumbo, J. (Jill), Salvarinova, R. (Ramona), Guella, I. (Ilaria), McKenzie, M.B. (Marna B.), Datta, A. (Anita), Connolly, M.B. (Mary B.), Kalkhoran, S.M. (Somayeh Mojard), Poburko, D. (Damon), Friedman, J.M. (Jan M.), Farrer, M.J. (Matthew), Demos, M. (Michelle), Desai, S. (Sonal), Claydon, T. (Thomas)

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Epilepsy, Epileptic encephalopathy, Intellectual disability, KCNQ5, Kv7.5, Potassium channels

Relation: http://repub.eur.nl/pub/100764; urn:hdl:1765/100764

الاتاحة: http://repub.eur.nl/pub/100764
https://doi.org/10.1016/j.ajhg.2017.05.016

المؤلفون: Steinfeld, H. (Hallie), Cho, M.T. (Megan T.), Retterer, K. (Kyle), Person, R. (Rick), Schaefer, G.B. (G. Bradley), Danylchuk, N. (Noelle), Malik, S. (Saleem), Wechsler, S.B. (Stephanie Burns), Wheeler, P.G. (Patricia G.), van Gassen, K.L.I. (Koen L.I.), Terhal, P. (Paulien), Verhoeven, V.J.M. (Virginie), Slegtenhorst, M.A. (Marjon) van, Monaghan, K.G. (Kristin G.), Henderson, L.B. (Lindsay B.), Chung, W. (Wendy)

المصدر: Neurogenetics vol. 17 no. 3, pp. 159-164

مصطلحات موضوعية: De novo, Developmental Delay, HIVEP2, Intellectual Disability, Whole-exome sequencing

Relation: http://repub.eur.nl/pub/90974; urn:hdl:1765/90974

الاتاحة: http://repub.eur.nl/pub/90974
https://doi.org/10.1007/s10048-016-0479-z