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Eclinicalmedicine|April 20, 2026
Estimating the prevalence of visual impairment in the Netherlands, with forecasts up to 2050: a meta-analysis of national databasesEllen B M Elsman, T Petra Rausch-Koster, Hilde P A van der Aa, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.American Journal of Human Genetics|November 25, 2003
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalitiesLisenka E L M Vissers, Bert B A de Vries, Kazutoyo Osoegawa, et al.Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.Ebiomedicine|October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 casesLeonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.Pageof 88