Lv3
258 积分 2024-04-24 加入
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights
2天前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
4天前
已完结
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand
6天前
已完结
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
17天前
已完结
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
18天前
已完结
Genetic analysis of different subtypes of aseptic pustulosis in the Chinese population
18天前
已完结
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing
18天前
已完结
Rare variants in MTHFR predispose to occurrence and recurrence of pulmonary embolism
18天前
已完结
Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
19天前
已关闭
Type II antithrombin deficiency caused by a novel missense mutation (p.Leu417Gln) in a Chinese family
20天前
已完结
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