Lv21
118 积分 2020-04-09 加入
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
6天前
已完结
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
1个月前
已完结
[Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes]
1个月前
已完结
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes
1个月前
已完结
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
2个月前
已完结
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
3个月前
已完结
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
3个月前
已完结
High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries
3个月前
已关闭
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
3个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
4个月前
已完结
皖公网安备34019202002308
