Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Muscle & Nerve|November 23, 2016
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American familyStanley Iyadurai, W David Arnold, John T Kissel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2002
Standards and guidelines for CFTR mutation testingCarolyn Sue Richards, Linda A Bradley, Jean Amos, et al.
Plos One|March 9, 2016
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical TrialsPhillip Zaworski, Katharine M von Herrmann, Shannon Taylor, et al.
European Heart Journal|December 16, 2010
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndromeSubha V Raman, Kavita Phatak, J Chad Hoyle, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Newborn and carrier screening for spinal muscular atrophyThomas W Prior, Pamela J Snyder, Britton D Rink, et al.
The Journal of Molecular Diagnostics : JMD|October 24, 2003
Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testingSusan H Bernacki, Ana K Stankovic, Laurina O Williams, et al.
The New England Journal of Medicine|May 6, 2005
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)Heather Hampel, Wendy L Frankel, Edward Martin, et al.
The Journal of Molecular Diagnostics : JMD|November 16, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative ProjectThomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratoriesElaine B Spector, Wayne W Grody, Carla J Matteson, et al.
Viruses|September 28, 2021
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat InsertionNicholas Brennecke, Ignazio Cali, Tze How Mok, et al.
Pageof 8