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918 积分 2026-02-28 加入
Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD
3天前
已关闭
The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder
9天前
已完结
Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia
9天前
已完结
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
10天前
已完结
Ataxia without telangiectasia masquerading as benign hereditary chorea
10天前
已完结
The Sexual Health and Well-being of Individuals With Complete Androgen Insensitivity Syndrome (CAIS)
18天前
已关闭
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis
18天前
已完结
Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development
18天前
已完结
Spectrum and genotype–phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis
18天前
已关闭
Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence
18天前
已完结
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