Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome
对患有科内莉亚·德·兰格综合征的“突变阴性”个体进行全基因组测序
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/4711663
Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L; D'Souza, Elston N; Barnett, Christopher; Wilkie, Andrew O M; Barnicoat, Angela; Patel, Chirag V; Sukarova-Angelovska, Elena; Girisha, Katta M; Firth, Helen V; Prescott, Katrina; Wilson, Louise C; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T; Lam, Wayne K; Sisodiya, Sanjay M; Green, Andrew J; Poke, Gemma; Whiffin, Nicola; FitzPatrick, David R; Meynert, Alison