학술논문
BRAT1 biallelic variations: phenotypic spectrum and phenotype-genotype correlation from 91 cases
Document Type
Journal
Author
Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Kuentz, Paul; Cabrol, Christelle; Brischoux-Boucher, Elise; Salpietro, Vincenzo; Villard, Laurent; Doco-Fenzy, Martine; Odent, Sylvie; Morris-Rosendahl, Deborah; Zaki, Maha; Gerard, Marion; Brusco, Alfredo; Putoux, Audrey; Poulton, Cathryn; Coubes, Christine; Mignot, Cyril; Bubshait, Dalal; Kraus, Dror; Alkuraya, Fowzan; Scheffer, Ingrid; Engels, Hartmut; Wagner, Johanna; Gleeson, Joseph; Kutsche, Kerstin; Massingham, Laure; Pasquier, Laurent; Penney, Lynette; Cilio, Maria Roberta; Cornet, Marie-Coralie; Di Giacomo, Marilena Carmela; Rio, Marlene; Wagner, Matias; Striano, Pasquale; Straussberg, Rachel; Kaiyrzhanov, Rauan; Srivastava, Siddarth; Baglioni, Valentina; Vitobello, Antonio; Rougeot, Christelle; Valente, Enza Maria; Houlden, Henry; Goffeney, Joanna; Bruel, Ange-Line; Schneider, Amy; Vanmaldergem, Lionel; Burglen, Lydie; Piard, Juliette
Source
Subject
Language
English
ISSN
14765438