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70 积分 2022-11-21 加入
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia
4天前
已完结
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
4天前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
13天前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
14天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
16天前
已关闭
An 18-Year Woman with Lipoyltransferase 1 Deficiency and Thalamic Degeneration
18天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
21天前
已完结
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
21天前
已关闭
Whole-Genome Sequencing Identifies Two Novel Rare Mutations in BMP5 and BMP2 in Monozygotic Twins With Microtia
23天前
已完结
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia
23天前
已关闭
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