Lv6
2162 积分 2024-06-13 加入
Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism
19小时前
待确认
Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)
11天前
已完结
Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia
19天前
已完结
Prenatal diagnosis and genetics analysis of a fetus with type 27 intellectual disability syndrome due to variant of SRRM2 gene
20天前
已完结
ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report
26天前
已完结
Clinical and genetic analysis of a family with Aicardi－Goutières syndrome and literature review
28天前
已完结
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China
28天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
1个月前
已完结
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