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

Marshall Summar

Showing results (61-70 of 68) with videos related to

Pageof 7
Sort By:
You have reached the last page of results.This site can display upto 68 results.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
22q11.2 deletion syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.
American Journal of Medical Genetics. Part A|December 20, 2016
Down syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Andrew K Sobering, et al.
Human Mutation|September 28, 2011
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.
Pageof 7

Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
22q11.2 deletion syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.
American Journal of Medical Genetics. Part A|December 20, 2016
Down syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Andrew K Sobering, et al.
Human Mutation|September 28, 2011
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.
American Journal of Medical Genetics. Part A|April 23, 2018
Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.
Pageof 7