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0 积分 2023-12-27 加入
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants
2天前
已完结
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome
4天前
已完结
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2
4天前
已完结
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2
4天前
已完结
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency
15天前
已完结
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China
16天前
已完结
A novel mutation in a craniofacial pustular pyoderma gangrenosum patient with secondary hemophagocytic lymphohistiocytosis
17天前
已完结
Mutation analysis of five candidate genes in Chinese patients with hypospadias
18天前
已完结
Clinical presentation and genetic characterization of early‐onset atrial fibrillation in patients affected by long QT syndrome: A single‐center experience
19天前
已完结
Spectrum of CraniosynostosisPhenotypes Associated with NovelMutations at the Fibroblast GrowthFactor Receptor 2 Locus
1个月前
已完结
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