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The Journal of Molecular Diagnostics : JMD|January 27, 2006
Mutation screening in juvenile polyposis syndromeRobert E Pyatt, Robert Pilarski, Thomas W PriorThe Application of Clinical Genetics|February 3, 2021
Spinal Muscular Atrophy: Mutations, Testing, and Clinical RelevanceMelissa C Keinath, Devin E Prior, Thomas W PriorGenetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2004
Technical standards and guidelines for Huntington disease testingNicholas T Potter, Elaine B Spector, Thomas W PriorClinical Chemistry|September 25, 2007
Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophyRobert E Pyatt, David C Mihal, Thomas W PriorMolecular Genetics & Genomic Medicine|January 19, 2020
A case report of genetic prion disease with two different PRNP variantsMegan Piazza, Thomas W Prior, Prabhjot S Khalsa, et al.Birth Defects Research|March 3, 2020
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defectsStela Z Berisha, Shashi Shetty, Thomas W Prior, et al.American Journal of Medical Genetics. Part A|September 21, 2004
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2Thomas W Prior, Kathryn J Swoboda, H Denman Scott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2011
Technical standards and guidelines for spinal muscular atrophy testingThomas W Prior, Narasimhan Nagan, Elaine A Sugarman, et al.Journal of Medical Genetics|June 11, 2011
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical featuresRobert Pilarski, Julie A Stephens, Ryan Noss, et al.American Journal of Medical Genetics. Part A|February 9, 2007
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyGail E Herman, Eric Butter, Benedicta Enrile, et al.Pageof 8