Lv33
222 积分 2024-04-24 加入
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty
13小时前
求助中
Genetic analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene
1天前
已完结
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation
2天前
已完结
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome
2天前
已完结
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights
7天前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
9天前
已完结
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand
11天前
已完结
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
23天前
已完结
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
24天前
已完结
Genetic analysis of different subtypes of aseptic pustulosis in the Chinese population
24天前
已完结
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