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

Saunder Bernes

Showing results (1-10 of 9) with videos related to

Pageof 1
Sort By:
Journal of Child Neurology|June 11, 2015
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain StimulationNeil Kulkarni, Sha Tang, Ratan Bhardwaj, et al.
Journal of the Neurological Sciences|February 6, 2009
Persistent CNS dysfunction in a boy with CMT1XCarly Siskind, Shawna M E Feely, Saunder Bernes, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 20, 2023
Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovecLaura Retson, Nishant Tiwari, Jennifer Vaughn, et al.
Genes|August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) SyndromesKeri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.
Neurology|November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlationsDong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Journal of Child Neurology|June 11, 2015
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain StimulationNeil Kulkarni, Sha Tang, Ratan Bhardwaj, et al.
Journal of the Neurological Sciences|February 6, 2009
Persistent CNS dysfunction in a boy with CMT1XCarly Siskind, Shawna M E Feely, Saunder Bernes, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 20, 2023
Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovecLaura Retson, Nishant Tiwari, Jennifer Vaughn, et al.
Genes|August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) SyndromesKeri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
Molecular Genetics and Metabolism|May 9, 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defectJulia Wang, Emily Kim, Honzheng Dai, et al.
Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.
Neurology|November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlationsDong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
Pageof 1