Lv3
230 积分 2022-10-09 加入
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma
8天前
已关闭
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing
7个月前
已完结
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
8个月前
已完结
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients
8个月前
已完结
Clinical and genetic characteristics of Dent's disease type 1 in Europe
1年前
已完结
Essential requirement for IER3IP1 in B cell development
1年前
已完结
Repurposing small molecules for nephronophthisis and related renal ciliopathies
1年前
已完结
Ciliopathies and the Kidney: A Review
1年前
已完结
Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies
1年前
已完结
Systematic review of mitochondrial genetic variation in attention-deficit/hyperactivity disorder
1年前
已完结
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