Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
肢体畸形的发育基因组学:等位基因系列与基因剂量效应相关,导致临床变异性
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2022.100132
Duan, Ruizhi; Hijazi, Hadia; Gulec, Elif Yilmaz; Eker, Hatice Koçak; Costa, Silvia R; Sahin, Yavuz; Ocak, Zeynep; Isikay, Sedat; Ozalp, Ozge; Bozdogan, Sevcan; Aslan, Huseyin; Elcioglu, Nursel; Bertola, Débora R; Gezdirici, Alper; Du, Haowei; Fatih, Jawid M; Grochowski, Christopher M; Akay, Gulsen; Jhangiani, Shalini N; Karaca, Ender; Gu, Shen; Coban-Akdemir, Zeynep; Posey, Jennifer E; Bayram, Yavuz; Sutton, V Reid; Carvalho, Claudia M B; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R