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

J Lawrence Merritt

Showing results (31-40 of 42) with videos related to

Pageof 5
Sort By:
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Human Molecular Genetics|October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyLaura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Human Molecular Genetics|October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiencyLaura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Pageof 5