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Neurology. Genetics|November 22, 2019
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutationChangrui Xiao, Elaine M Binkley, Jessica Rexach, et al.Evidence Report/Technology Assessment|January 16, 2014
Enabling patient-centered care through health information technologyJoseph Finkelstein, Amy Knight, Spyridon Marinopoulos, et al.JMIR Human Factors|November 29, 2021
Stakeholder Perspectives on an Inpatient Hypoglycemia Informatics Alert: Mixed Methods StudyNestoras Mathioudakis, Moeen Aboabdo, Mohammed S Abusamaan, et al.Journal of Human Genetics|March 27, 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblingsZejuan Li, Rhonda Schonberg, Lucia Guidugli, et al.Restorative Neurology and Neuroscience|March 17, 2026
Cognitive Rehabilitation After Stroke: A Case Series Testing a New Method to Transfer Gains to Daily LifeGitendra Uswatte, Edward Taub, Staci McKay, et al.Archives of Public Health = Archives Belges De Sante Publique|December 30, 2025
Implementing brain health strategies in primary care: methods and baseline findings from the BHAM registryPamela G Bowen, Catherine Danielle Jones, Terina Myers, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2019
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialtiesKaren E Wain, Danielle R Azzariti, Jennifer L Goldstein, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 20, 2016
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approachGorka Alkorta-Aranburu, Madina Sukhanova, David Carmody, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variantsTracy Brandt, Laura M Sack, Dolores Arjona, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypesMiao Sun, Amy Knight Johnson, Viswateja Nelakuditi, et al.Pageof 3