Lv5
1150 积分 2024-02-29 加入
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
8天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
9天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
2个月前
已完结
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
2个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
3个月前
已完结
Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype
3个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
3个月前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
4个月前
已完结
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