학술논문
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Document Type
Artikel
Author
Jansen, S; Hoischen, A; Coe, BP; Carvill, GL; Van Esch, H; Bosch, DGM; Andersen, UA; Baker, C; Bauters, M; Bernier, RA; van Bon, BW; Claahsen-van der Grinten, HL; Gecz, J; Gilissen, C; Grillo, L; Hackett, A; Kleefstra, T; Koolen, D; Kvarnung, M; Larsen, MJ; Marcelis, C; McKenzie, F; Monin, ML; Nava, C; Schuurs-Hoeijmakers, JH; Pfundt, R; Steehouwer, M; Stevens, SJC; Stumpel, CT; Vansenne, F; Vinci, M; van de Vorst, M; de Vries, P; Witherspoon, K; Veltman, JA; Brunner, HG; Mefford, HC; Romano, C; Vissers, LELM; Eichler, EE; de Vries, BBA
Source
European journal of human genetics : EJHG. 26(1):54-63
Subject
Language
English
English
English
ISSN
1476-5438