Lv13
70 积分 2022-09-24 加入
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1天前
待确认
Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques
10天前
已完结
Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy
10天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
11天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
11天前
已完结
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis
13天前
已完结
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
15天前
已完结
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
15天前
已完结
A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly
17天前
已完结
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