Lv4
580 积分 2022-09-10 加入
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
1天前
待确认
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
3个月前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
3个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
3个月前
已完结
The Role of the Gap Junction Protein Connexin32 in the Pathogenesis of X‐Linked Charcot‐Marie‐Tooth Disease
4个月前
已完结
[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]
4个月前
已关闭
R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome
4个月前
已完结
[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene]
4个月前
已关闭
[Gene Mutants and Their Clinical Characteristics of G6PD Deficiency Among Children in Luzhou Area]
4个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
4个月前
已完结
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