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

B Agrawal

Showing results (241-250 of 360) with videos related to

Pageof 36
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2017
A curated gene list for reporting results of newborn genomic sequencingOzge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|March 19, 2024
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unitErica E D'Souza, Tina O Findley, Rachel Hu, et al.
Neurogenetics|September 24, 2015
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsCatherine A Brownstein, Alan H Beggs, Lance Rodan, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeVidhu V Thaker, Kristyn M Esteves, Meghan C Towne, et al.
American Journal of Medical Genetics. Part A|October 10, 2020
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosisAlissa M D'Gama, Eleina England, Jill A Madden, et al.
Human Molecular Genetics|September 16, 2017
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early deathSiqi Cao, Laura L Smith, Sergio R Padilla-Lopez, et al.
Clinical Genetics|November 6, 2020
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestationsCamille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, et al.
Molecular Genetics and Metabolism Reports|July 11, 2018
Novel <i>ETFDH</i> mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiencyXin Fan, Bobo Xie, Jun Zou, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
NPJ Genomic Medicine|March 6, 2023
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestationsFrances O Flanagan, Alexander M Holtz, Sara O Vargas, et al.
Pageof 36

Showing results (241-250 of 360) with videos related to

Sort By:
Pageof 36
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2017
A curated gene list for reporting results of newborn genomic sequencingOzge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|March 19, 2024
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unitErica E D'Souza, Tina O Findley, Rachel Hu, et al.
Neurogenetics|September 24, 2015
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsCatherine A Brownstein, Alan H Beggs, Lance Rodan, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeVidhu V Thaker, Kristyn M Esteves, Meghan C Towne, et al.
American Journal of Medical Genetics. Part A|October 10, 2020
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosisAlissa M D'Gama, Eleina England, Jill A Madden, et al.
Human Molecular Genetics|September 16, 2017
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early deathSiqi Cao, Laura L Smith, Sergio R Padilla-Lopez, et al.
Clinical Genetics|November 6, 2020
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestationsCamille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, et al.
Molecular Genetics and Metabolism Reports|July 11, 2018
Novel <i>ETFDH</i> mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiencyXin Fan, Bobo Xie, Jun Zou, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
NPJ Genomic Medicine|March 6, 2023
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestationsFrances O Flanagan, Alexander M Holtz, Sara O Vargas, et al.
Pageof 36