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American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.
American Journal of Medical Genetics. Part A|April 25, 2013
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcomeMarije E C Meuwissen, Maarten H Lequin, Karen Bindels-de Heus, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Gut|November 13, 2002
Retreatment with interferon plus ribavirin of chronic hepatitis C non-responders to interferon monotherapy: a meta-analysis of individual patient dataC Cammà, S Bruno, F Schepis, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
Development (Cambridge, England)|September 2, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain developmentJordy Dekker, Wendy Lam, Herma C van der Linde, et al.
Clinical Genetics|June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ M van de Kamp, G M S Mancini, P J W Pouwels, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Molecular Genetics and Metabolism|November 9, 2005
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiencyM C Y de Wit, I F M de Coo, E Verbeek, et al.
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