Lv2
104 积分 2024-11-25 加入
be water
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
8天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
11天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
11天前
已完结
Clinical and immunological phenotype of patients caryying CASP10 variants
17天前
已完结
Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray
18天前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
22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
28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
29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
皖公网安备34019202002308
