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Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.382-383 -
RXFP2 : validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility
(2023) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 96(Supplement 4). p.397-398 -
- Journal Article
- A1
- open access
Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series
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Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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- Journal Article
- A1
- open access
Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study
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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 -
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family
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Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance