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

Arthur L Beaudet

Showing results (161-170 of 190) with videos related to

Pageof 19
Sort By:
Autism Research : Official Journal of the International Society for Autism Research|May 14, 2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Pauline Chaste, Stephan J Sanders, Kommu N Mohan, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Pageof 19

Showing results (161-170 of 190) with videos related to

Sort By:
Pageof 19
Autism Research : Official Journal of the International Society for Autism Research|May 14, 2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Pauline Chaste, Stephan J Sanders, Kommu N Mohan, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Pageof 19