Lv11
10 积分 2023-01-14 加入
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
4小时前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
8天前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
16天前
已完结
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
19天前
已完结
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants
20天前
已完结
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy
22天前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
22天前
已完结
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype
1个月前
已完结
Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients
1个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1个月前
已关闭
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