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 (331-340 of 360) with videos related to

Pageof 36
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
Pageof 36

Showing results (331-340 of 360) with videos related to

Sort By:
Pageof 36
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.
Pageof 36