Lv11
80 积分 2023-02-16 加入
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
22天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2个月前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
2个月前
已完结
Association of HBB Gene Variants with Laboratory Profiles and Comorbidities in Taiwanese beta thalassemia carriers: A Case–Control Study
2个月前
已完结
Molecular and functional studies of novel genetic variants of TP63 an SAMD11 genes unravel their potential role in the pathogenesis of primary ovarian insufficiency
2个月前
已关闭
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies
3个月前
已完结
Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation
3个月前
已完结
MODY in Ukraine: genes, clinical phenotypes and treatment
3个月前
已关闭
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
4个月前
已完结
Mutations in theSLCO2A1Gene and Primary Hypertrophic Osteoarthropathy: A Clinical and Biochemical Characterization
4个月前
已完结
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