Lv1
20 积分 2025-08-23 加入
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement
23小时前
待确认
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2
1天前
已完结
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders
2天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
2天前
已完结
Phenotypic Expansion: Fetus With Cole‐Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia
8天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
12天前
已完结
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
13天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
13天前
已完结
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
14天前
已完结
Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore
16天前
已关闭
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