Lv1
20 积分 2022-11-21 加入
Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]—Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn’s Disease
18小时前
已完结
Functional analysis of mutant SLCO2A1 transporters found in patients with chronic enteropathy associated with SLCO2A1
20小时前
已完结
Hyper-IgM syndrome--a case report and a clinical perspective
3天前
已关闭
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]
3天前
已完结
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]
3天前
已关闭
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
7天前
已完结
A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family
7天前
已关闭
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
8天前
已完结
Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management
9天前
已完结
Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management
9天前
已关闭
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