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Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism
(2021) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 94(supplement 1). p.42-43 -
Update on the genetics of differences of sex development (DSD)
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- Journal Article
- A1
- open access
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
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Non-coding variation in disorders of sex development
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- Journal Article
- A1
- open access
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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De genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling
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Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
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- Journal Article
- A1
- open access
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development
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Forkhead transcription factors in genetic disease