Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Thomas W Prior

Showing results (21-30 of 82) with videos related to

Pageof 9
Sort By:
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.
American Journal of Medical Genetics. Part A|December 20, 2013
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutationKandamurugu Manickam, Daniel J Donoghue, April N Meyer, et al.
The Journal of Molecular Diagnostics : JMD|May 3, 2002
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testingXiao-Ping Zhou, Heather Hampel, Jennifer Roggenbuck, et al.
Annals of Neurology|July 29, 2005
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cellsSusanna M Grzeschik, Madhuri Ganta, Thomas W Prior, et al.
Human Molecular Genetics|May 2, 2017
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophyXingxing Wu, Shu-Huei Wang, Junjie Sun, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesJessica X Chong, A Afşin Oktay, Zunyan Dai, et al.
The Journal of Molecular Diagnostics : JMD|April 29, 2006
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reactionHongxin Fan, Chris Civalier, Jessica K Booker, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionSara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, et al.
Pageof 9

Showing results (21-30 of 82) with videos related to

Sort By:
Pageof 9
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.
American Journal of Medical Genetics. Part A|December 20, 2013
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutationKandamurugu Manickam, Daniel J Donoghue, April N Meyer, et al.
The Journal of Molecular Diagnostics : JMD|May 3, 2002
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testingXiao-Ping Zhou, Heather Hampel, Jennifer Roggenbuck, et al.
Annals of Neurology|July 29, 2005
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cellsSusanna M Grzeschik, Madhuri Ganta, Thomas W Prior, et al.
Human Molecular Genetics|May 2, 2017
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophyXingxing Wu, Shu-Huei Wang, Junjie Sun, et al.
European Journal of Human Genetics : EJHG|May 26, 2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesJessica X Chong, A Afşin Oktay, Zunyan Dai, et al.
The Journal of Molecular Diagnostics : JMD|April 29, 2006
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reactionHongxin Fan, Chris Civalier, Jessica K Booker, et al.
American Journal of Medical Genetics. Part A|April 6, 2011
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionSara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, et al.
Pageof 9