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European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.Journal of Medical Genetics|October 14, 2022
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasiaTessi Beyltjens, Eveline Boudin, Nicole Revencu, et al.Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.Bioinformatics (Oxford, England)|June 28, 2024
Approximating facial expression effects on diagnostic accuracy via generative AI in medical geneticsTanviben Patel, Amna A Othman, Ömer Sümer, et al.European Journal of Human Genetics : EJHG|October 9, 2014
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patientDenise Emmerich, Tomasz Zemojtel, Jochen Hecht, et al.Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.Brain : a Journal of Neurology|December 14, 2020
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophyKorbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, et al.Pageof 39