Lv4
458 积分 2025-07-13 加入
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene
7天前
已完结
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G‐C content
7天前
已完结
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy]
12天前
已完结
[Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study]
12天前
已完结
Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
20天前
已关闭
Yellow Nail Syndrome in Childhood: A Case Report Highlighting Diagnostic Challenges and the Possible Role of Nail Development-Related Genetic Variants
27天前
已关闭
Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families
27天前
已关闭
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred
27天前
已完结
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
28天前
已完结
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