- ORCID iD
- 0000-0002-0258-1000
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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
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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
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing