Lv2
120 积分 2024-05-14 加入
Novel variants in the PAX6 gene related to isolated aniridia
6天前
已完结
Mutation spectrum and health status in skeletal muscle channelopathies in Japan
20天前
已完结
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
24天前
已完结
AP-1 contributes to endosomal targeting of ubiquitin ligase RNF13 via a secondary and novel non-canonical binding motif
28天前
已关闭
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma
29天前
已关闭
From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement
30天前
已完结
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
1个月前
已关闭
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
1个月前
已完结
Phenotypic Heterogeneity in Patients and Mice with Immunodeficiency Caused by SASH3 Mutations
1个月前
已关闭
Prenatal ultrasound findings, genetic testing, and literature review of Isolated left subclavian artery
1个月前
已完结
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