Lv3
230 积分 2022-10-09 加入
Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN
2天前
已完结
Endocrine dysfunction in primary mitochondrial diseases
14天前
已完结
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature
14天前
已关闭
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma
1个月前
已关闭
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing
8个月前
已完结
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
9个月前
已完结
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients
9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
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