Lv3
324 积分 2023-06-28 加入
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
8天前
已关闭
Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants
9天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
20天前
已完结
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands
22天前
已完结
A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree
24天前
已完结
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
28天前
已关闭
Molecular characterization of maple syrup urine disease patients from Tunisia
28天前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1个月前
已完结
Antenatal Bartter Syndrome Type 4a: Ibuprofen Treatment for a Challenging Case of Very Low Birth Weight Infant
1个月前
已关闭
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