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American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, et al.Journal of Medical Genetics|July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyIris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in DDX3X - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohortsMartina Marangoni, Guillaume Smits, Gilles Ceysens, et al.Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.Pageof 13