Lv2
104 积分 2024-11-25 加入
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HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
3天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
6天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
6天前
已完结
Clinical and immunological phenotype of patients caryying CASP10 variants
12天前
已完结
Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray
13天前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
17天前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
23天前
已完结
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
24天前
已完结
Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis
1个月前
已关闭
Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants
1个月前
已完结
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