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0000-0002-0914-2676
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Role of the pediatrician in the initial management of a newborn with differences of sex development or hypospadias
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- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis
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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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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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Ovotesticular difference of sex development : genetic background, histological features and clinical management
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- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review