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Research 991–1000 of 1000+
- Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
- Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
- Dental considerations in acrodermatitis enteropathica: A report of two cases
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- Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
- A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
- GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy