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982 积分 2026-02-28 加入
Case Report: Familial complete androgen insensitivity syndrome across four sisters from childhood to adulthood — a hemizygous AR p.Trp742Leu variant and a 14-year failure to initiate familial cascade evaluation
1个月前
已完结
Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD
1个月前
已完结
Long-term Clinical Outcomes of Primary Adrenal Insufficiency Caused by Homozygous CYP11A1 p.R451W Variant
1个月前
已完结
Identification of Novel Cytogenetic Alterations and Y Chromosome Microdeletions in Infertile Males
1个月前
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
1个月前
已完结
Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study
1个月前
已完结
Gynecologic function and dysfunction in transmasculine and gender-diverse individuals using testosterone therapy: a systematic review
1个月前
已完结
Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach
1个月前
已完结
Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum
1个月前
已完结
Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing
1个月前
已完结
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