Showing results (1-10 of 73) with videos related to

Sort By:
Pageof 8
Cold Spring Harbor Perspectives in Medicine|September 11, 2019
Genetic Counseling in Neurodevelopmental DisordersAlyssa Blesson, Julie S Cohen
Cold Spring Harbor Molecular Case Studies|January 10, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literatureDaniah Albokhari, Ohood Alharbi, Alyssa Blesson, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Quality of life in rare genetic conditions: a systematic review of the literatureJulie S Cohen, Barbara B Biesecker
Genes|April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental DisorderIneke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
Journal of Genetic Counseling|February 8, 2020
Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencingAhna Neustadt, Jill Owczarzak, Weiyi Mu, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|February 7, 2024
Navigating Neurogenetics for Child and Adolescent Psychiatry PracticeAaron J Hauptman, Jay A Salpekar, Julie S Cohen, et al.
Journal of Genetic Counseling|September 26, 2019
Challenges to informed consent for exome sequencing: A best-worst scaling experimentRachel H Gore, John F P Bridges, Julie S Cohen, et al.
The Journal of Molecular Diagnostics : JMD|June 27, 2007
Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysisKathleen M Murphy, Julie S Cohen, Amy Goodrich, et al.
SAGE Open Medical Case Reports|November 1, 2018
Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variantEboni I Lance, Martin Kronenbuerger, Julie S Cohen, et al.
Journal of Child Neurology|September 7, 2018
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and ChoreoathetosisEliza Gordon-Lipkin, Julie S Cohen, Siddharth Srivastava, et al.
Pageof 8