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European Journal of Medical Genetics|March 1, 2014
Presenting symptoms in adults with the 22q11 deletion syndromeAnnick Vogels, Sara Schevenels, Richard Cayenberghs, et al.
Bjpsych Open|November 11, 2024
Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndromeClaudia Vingerhoets, Julia Ruiz-Fernandez, Emma von Scheibler, et al.
Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Journal of Autism and Developmental Disorders|November 18, 2024
Determinants of Positive Evolution of Symptoms in Children with Autism Spectrum Disorders (ASD) during the COVID-19 Lockdown in the Democratic Republic of Congo. (DRC)Davin Mbeya Mpaka, Luck Lukusa, Sifa Marie Joelle Muchanga, et al.
Prenatal Diagnosis|February 2, 2018
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testingNathalie Brison, Maria Neofytou, Luc Dehaspe, et al.
The Pan African Medical Journal|March 16, 2017
Prevalence and comorbidities of autism among children referred to the outpatient clinics for neurodevelopmental disordersDavin Mbeya Mpaka, Daniel Luwa E-Andjafono Okitundu, Ally Omba Ndjukendi, et al.
The Lancet. Neurology|October 5, 2013
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trialThijs van der Vaart, Ellen Plasschaert, André B Rietman, et al.
Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidiesNathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
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