Lv51
1150 积分 2024-02-29 加入
Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families
6小时前
已完结
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]
1个月前
已完结
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
2个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
2个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
3个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
3个月前
已完结
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
4个月前
已完结
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
4个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
5个月前
已完结
Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype
5个月前
已完结
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