Lv1
10 积分 2023-06-11 加入
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
8天前
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
22天前
已完结
Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria
1个月前
已完结
The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study
1个月前
已完结
Monoallelic ATP7B variants in adult-onset cerebellar ataxia
1个月前
已完结
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function
1个月前
已完结
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation
1个月前
已完结
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
3个月前
已关闭
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
3个月前
已完结
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
3个月前
已完结
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