Translating genomics to the clinical diagnosis of disorders/differences of sex development
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Elsevier
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1. Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development;Molecular Genetics & Genomic Medicine;2024-05
2. Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study;The Journal of Clinical Endocrinology & Metabolism;2024-04-16
3. Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development;Biology of Sex Differences;2024-03-22
4. Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development;American Journal of Medical Genetics Part A;2023-10-03
5. Contexts of care for people with differences of sex development;Medizinische Genetik;2023-08-08
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