Lv11
10 积分 2023-12-27 加入
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
21分钟前
待确认
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
4天前
已完结
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy
4天前
已完结
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy
4天前
已完结
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients
6天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
8天前
已完结
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
13天前
已关闭
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy
13天前
已完结
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
14天前
已完结
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
19天前
已完结
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