Lv1
100 积分 2025-10-16 加入
Mutations in SBDS are associated with Shwachman-Diamond syndrome
20天前
已完结
Genotype-phenotype correlations in KCNA2 related neurodevelopmental disorder: expanding the clinical and molecular spectrum
23天前
已关闭
A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review
24天前
已完结
Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency
1个月前
已完结
Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes
1个月前
已完结
Molecular diagnostic dilemmas in Rett syndrome
4个月前
已完结
Single-Cell RNA Sequencing Reveals the Cellular Origin and Evolution of Breast Cancer in BRCA1 Mutation Carriers
5个月前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
9个月前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
9个月前
已完结
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity
1年前
已完结
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