The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
CHD4相关综合征:临床表现、基因型-表型相关性及分子基础的全面研究
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0612-0
Weiss, Karin; Lazar, Hayley P; Kurolap, Alina; Martinez, Ariel F; Paperna, Tamar; Cohen, Lior; Smeland, Marie F; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D; Petrovich, Robert M; Schrier Vergano, Samantha A; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Līvija; Krock, Bryan; Skraban, Cara M; Zackai, Elaine H; Dubbs, Holly A; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D; Baris Feldman, Hagit; Campeau, Philippe M; Muenke, Maximilian; Wade, Paul A; Lachlan, Katherine