Lv3
244 积分 2024-04-24 加入
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation
7小时前
已完结
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome
11小时前
已完结
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights
5天前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
7天前
已完结
Clinical Characteristics of SCN5A p.R965C Carriers: A Common Founder Variant Predisposing to Brugada Syndrome in Thailand
9天前
已完结
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
21天前
已完结
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
22天前
已完结
Genetic analysis of different subtypes of aseptic pustulosis in the Chinese population
22天前
已完结
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing
22天前
已完结
Rare variants in MTHFR predispose to occurrence and recurrence of pulmonary embolism
22天前
已完结
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