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0000-0002-0258-1000
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Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
(2024) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 97(Supplement 3). p.61-61 -
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis
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- Journal Article
- A1
- open access
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
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Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples
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Preconceptionele uitgebreide dragerschapsscreening : een genetische test voor koppels met een kinderwens
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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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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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- Journal Article
- A1
- open access
Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience