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Thomas W Prior

Showing results (41-50 of 82) with videos related to

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Genetic Testing and Molecular Biomarkers|October 14, 2011
Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratoryFatimah A Nahhas, Thomas J Monroe, Thomas W Prior, et al.
American Journal of Human Genetics|September 1, 2009
A positive modifier of spinal muscular atrophy in the SMN2 geneThomas W Prior, Adrian R Krainer, Yimin Hua, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2002
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2Matthew D Mailman, John W Heinz, Audrey C Papp, et al.
Muscle & Nerve|November 15, 2019
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophyBakri Elsheikh, Wendy King, Juan Peng, et al.
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.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
Genetic Testing and Molecular Biomarkers|October 14, 2011
Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratoryFatimah A Nahhas, Thomas J Monroe, Thomas W Prior, et al.
American Journal of Human Genetics|September 1, 2009
A positive modifier of spinal muscular atrophy in the SMN2 geneThomas W Prior, Adrian R Krainer, Yimin Hua, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2002
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2Matthew D Mailman, John W Heinz, Audrey C Papp, et al.
Muscle & Nerve|November 15, 2019
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophyBakri Elsheikh, Wendy King, Juan Peng, et al.
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.
Pageof 9