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Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencingMark B Consugar, Daniel Navarro-Gomez, Emily M Place, et al.Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.Human Genetics|May 17, 2023
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residuesDaphne J Smits, Rachel Schot, Cristiana A Popescu, et al.Journal of Neurogenetics|May 3, 2017
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotypeFanggeng Zou, Kirsty McWalter, Lindsay Schmidt, et al.The Journal of Molecular Diagnostics : JMD|July 30, 2016
Health Care Infrastructure for Financially Sustainable Clinical GenomicsJochen K Lennerz, Heather M McLaughlin, Jason M Baron, et al.Genome Biology|February 11, 2020
A post-transcriptional program of chemoresistance by AU-rich elements and TTP in quiescent leukemic cellsSooncheol Lee, Douglas Micalizzi, Samuel S Truesdell, et al.Clinical Genetics|January 25, 2019
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statementMarcella Zollino, Christiane Zweier, Ingrid D Van Balkom, et al.American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.Pageof 6