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American Journal of Human Genetics|March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationShreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
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