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Human Molecular Genetics|September 11, 2021
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial diseaseWen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, et al.Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.JAMA Network Open|July 20, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset EpilepsyHyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, et al.American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.American Journal of Human Genetics|August 4, 2023
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disordersAlba Sanchis-Juan, Karyn Megy, Jonathan Stephens, et al.American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.Pageof 2