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European Journal of Human Genetics : EJHG|January 10, 2024
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)Nathalie Veyt, Griet Van Buggenhout, Koen Devriendt, et al.
Acta Clinica Belgica|August 12, 2020
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in BelgiumCas Dejonckheere, Carolien Moyson, Francis de Zegher, et al.
Genes, Brain, and Behavior|May 18, 2022
The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skillsKimberly C Kuiper, Hanna Swaab, Nicole Tartaglia, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|November 6, 2003
Congenital aural atresia in 18q deletion or de Grouchy syndromeInge Nuijten, Ronald Admiraal, Griet Van Buggenhout, et al.
Brain & Development|December 27, 2005
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patientsUte Moog, Kees Van Roozendaal, Eric Smeets, et al.
European Journal of Medical Genetics|March 1, 2014
Presenting symptoms in adults with the 22q11 deletion syndromeAnnick Vogels, Sara Schevenels, Richard Cayenberghs, et al.
Genome Medicine|January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disordersMathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pterPiotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
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