Lv11
100 积分 2024-08-13 加入
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
1小时前
待确认
Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant
1个月前
已完结
Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome
1个月前
已关闭
Gain‐of‐Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy
1个月前
已完结
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies
2个月前
已完结
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
2个月前
已关闭
皖公网安备34019202002308
