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468 积分 2023-12-22 加入
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
7小时前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
6天前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
6天前
已完结
Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples
6天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
17天前
已完结
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro- Muscular Center
23天前
已完结
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
23天前
已完结
Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome
28天前
已完结
Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis
1个月前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1个月前
已完结
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