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

Jennifer Sullivan

Showing results (51-60 of 60) with videos related to

Pageof 6
Sort By:
You have reached the last page of results.This site can display upto 60 results.
American Journal of Physiology. Lung Cellular and Molecular Physiology|February 7, 2019
Galectin-3 is expressed in vascular smooth muscle cells and promotes pulmonary hypertension through changes in proliferation, apoptosis, and fibrosisScott A Barman, Xueyi Li, Stephen Haigh, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
American Journal of Physiology. Lung Cellular and Molecular Physiology|February 7, 2019
Galectin-3 is expressed in vascular smooth muscle cells and promotes pulmonary hypertension through changes in proliferation, apoptosis, and fibrosisScott A Barman, Xueyi Li, Stephen Haigh, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 6