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

Bryn D Webb

Showing results (11-20 of 51) with videos related to

Pageof 6
Sort By:
Brain : a Journal of Neurology|February 25, 2014
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromesJanet C Rucker, Bryn D Webb, Tamiesha Frempong, et al.
Stem Cell Research|June 26, 2026
Dual CRISPR/Cas9 correction of compound heterozygous MARS2 mutations in the iPSC line ISMMSi060-A from a patient with COXPD25Norman N Liu, Erdene Baljinnyam, Ruiqi Hu, et al.
Stem Cell Research|January 28, 2025
Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25Sophia E Salemi, Erdene Baljinnyam, Norman N Liu, et al.
Human Mutation|January 6, 2017
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks SyndromeBryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, et al.
American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.
American Journal of Medical Genetics. Part A|September 7, 2023
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndromeRyan W Gates, Bryn D Webb, David A Stevenson, et al.
Stem Cell Research|February 22, 2026
Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onsetNorman N Liu, Ruiqi Hu, Samuel J Hubbard, et al.
Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephalyJennifer Morrison, Norah K Altuwaijri, Kirsten Brønstad, et al.
WMJ : Official Publication of the State Medical Society of Wisconsin|February 5, 2025
The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative PatientsJadin M Heilmann, April L Hall, Janet M Legare, et al.
Pageof 6

Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
Brain : a Journal of Neurology|February 25, 2014
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromesJanet C Rucker, Bryn D Webb, Tamiesha Frempong, et al.
Stem Cell Research|June 26, 2026
Dual CRISPR/Cas9 correction of compound heterozygous MARS2 mutations in the iPSC line ISMMSi060-A from a patient with COXPD25Norman N Liu, Erdene Baljinnyam, Ruiqi Hu, et al.
Stem Cell Research|January 28, 2025
Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25Sophia E Salemi, Erdene Baljinnyam, Norman N Liu, et al.
Human Mutation|January 6, 2017
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks SyndromeBryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, et al.
American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.
American Journal of Medical Genetics. Part A|September 7, 2023
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndromeRyan W Gates, Bryn D Webb, David A Stevenson, et al.
Stem Cell Research|February 22, 2026
Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onsetNorman N Liu, Ruiqi Hu, Samuel J Hubbard, et al.
Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephalyJennifer Morrison, Norah K Altuwaijri, Kirsten Brønstad, et al.
WMJ : Official Publication of the State Medical Society of Wisconsin|February 5, 2025
The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative PatientsJadin M Heilmann, April L Hall, Janet M Legare, et al.
Pageof 6