Lv11
10 积分 2023-12-27 加入
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
5小时前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
5天前
已完结
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy
5天前
已完结
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy
5天前
已完结
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients
7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
14天前
已完结
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
15天前
已完结
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
20天前
已完结
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