Lv11
10 积分 2023-06-11 加入
The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study
1小时前
待确认
Monoallelic ATP7B variants in adult-onset cerebellar ataxia
1小时前
求助中
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function
2小时前
已完结
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
3小时前
已完结
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
1个月前
已关闭
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
1个月前
已完结
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
2个月前
已完结
Current and Emerging Precision Therapies for Developmental and Epileptic Encephalopathies
2个月前
已完结
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
2个月前
已完结
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
2个月前
已完结
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