Lv1
60 积分 2023-09-19 加入
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
1个月前
已完结
Phenotypic Variability of SOCS1 Haploinsufficiency
3个月前
已完结
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]
3个月前
已完结
Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson’s Disease
3个月前
已完结
Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
4个月前
已完结
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype
4个月前
已完结
Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes
4个月前
已完结
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2
5个月前
已完结
Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis
6个月前
已完结
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
6个月前
已完结
UHRF1 promotes renal cell carcinoma progression through epigenetic regulation of TXNIP
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