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112 积分 2023-01-05 加入
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis
2天前
已完结
Dubin‐Johnson Syndrome as Differential Diagnosis for Neonatal Cholestasis
2天前
已完结
[Conradi-Hünermann-Happle syndrome]
3天前
已关闭
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3天前
已关闭
[Asp-190-Tyr mutation in the rhodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis]
4天前
已关闭
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy
9天前
已关闭
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures
10天前
已关闭
Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report
10天前
已关闭
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis
12天前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
12天前
已完结
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