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Pediatric Gastroenterology, Hepatology & Nutrition|January 28, 2022
Delayed Analysis of Hydrogen-Methane Breath SamplesMarjolein Willemsen, Kristel Van De Maele, Yvan VandenplasMitochondrion|May 23, 2006
Females with PDHA1 gene mutations: a diagnostic challengeMarjolein Willemsen, Richard J T Rodenburg, Alexandra Teszas, et al.European Journal of Human Genetics : EJHG|January 14, 2018
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivityXia Li, Sibylle Poschmann, Qiuyun Chen, et al.American Journal of Medical Genetics. Part A|August 5, 2010
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literatureTjitske Kleefstra, Nicole de Leeuw, Roy Wolf, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderHolly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, et al.Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.Pageof 1