Lv1
70 积分 2024-12-04 加入
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study
1个月前
已关闭
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Spectrum of Mutations in Gitelman Syndrome
2个月前
已关闭
Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol
2个月前
已完结
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia
3个月前
已完结
Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies
3个月前
已完结
Clinical, biochemical, and genetic characterization of Lebanese patients with chronic granulomatous disease due to NCF2 pathogenic variants
6个月前
已关闭
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
7个月前
已完结
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