Defining the phenotypical spectrum associated with variants in TUBB2A
确定与 TUBB2A 变异相关的表型谱
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2019-106740
Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J; Mirzaa, Ghayda; Dobyns, William B; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C; Stouffs, Katrien