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

Joseph G Gleeson

Showing results (251-260 of 325) with videos related to

Pageof 33
Sort By:
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
American Journal of Human Genetics|June 15, 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
American Journal of Human Genetics|December 3, 2021
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Pageof 33

Showing results (251-260 of 325) with videos related to

Sort By:
Pageof 33
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
American Journal of Human Genetics|June 15, 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
American Journal of Human Genetics|December 3, 2021
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics|November 3, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Pageof 33