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

Kevin T A Booth

Showing results (1-10 of 14) with videos related to

Pageof 2
Sort By:
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
Molecular Genetics and Metabolism|June 24, 2023
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)Melissa A Fayette, Kevin T A Booth, Ty C Lynnes, et al.
Archives of Pathology & Laboratory Medicine|May 15, 2024
ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric CancerKevin T A Booth, Rachael R Schulte, Laurin Smith, et al.
Clinical Genetics|October 22, 2024
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing LossNegar Kazemi, Raziye Rezvani Rezvandeh, Farzane Zare Ashrafi, et al.
Human Genetics|September 29, 2025
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlationsJoseph J Chin, W Daniel Walls, Kai Wang, et al.
JMIR Bioinformatics and Biotechnology|April 14, 2026
The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis StudyBenjamin DeSollar, Nathan Schaefer, Daniel Walls, et al.
International Journal of Molecular Sciences|May 27, 2023
Biallelic Loss-of-Function Variants in <i>BICD1</i> Are Associated with Peripheral Neuropathy and Hearing LossYoel Hirsch, Wendy K Chung, Sergey Novoselov, et al.
Nature Communications|December 16, 2025
Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochleaMaryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2025
Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochleaMaryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|January 14, 2026
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected MotherRachel Rabin, Kevin T A Booth, Shawn E Cowper, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
Molecular Genetics and Metabolism|June 24, 2023
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)Melissa A Fayette, Kevin T A Booth, Ty C Lynnes, et al.
Archives of Pathology & Laboratory Medicine|May 15, 2024
ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric CancerKevin T A Booth, Rachael R Schulte, Laurin Smith, et al.
Clinical Genetics|October 22, 2024
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing LossNegar Kazemi, Raziye Rezvani Rezvandeh, Farzane Zare Ashrafi, et al.
Human Genetics|September 29, 2025
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlationsJoseph J Chin, W Daniel Walls, Kai Wang, et al.
JMIR Bioinformatics and Biotechnology|April 14, 2026
The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis StudyBenjamin DeSollar, Nathan Schaefer, Daniel Walls, et al.
International Journal of Molecular Sciences|May 27, 2023
Biallelic Loss-of-Function Variants in <i>BICD1</i> Are Associated with Peripheral Neuropathy and Hearing LossYoel Hirsch, Wendy K Chung, Sergey Novoselov, et al.
Nature Communications|December 16, 2025
Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochleaMaryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2025
Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochleaMaryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, et al.
Pageof 2