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

Kym M Boycott

Showing results (151-160 of 239) with videos related to

Pageof 24
Sort By:
Clinical Genetics|June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort StudyAlexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Clinical Therapeutics|July 15, 2023
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic ConditionsWendy J Ungar, Robin Z Hayeems, Christian R Marshall, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasiaGabrielle Lemire, Bixia Zheng, Grace U Ediae, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Plos Genetics|January 23, 2016
Consent Codes: Upholding Standard Data Use ConditionsStephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
CMAJ Open|May 24, 2022
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing OntarioRobin Z Hayeems, Christian R Marshall, Meredith K Gillespie, et al.
American Journal of Human Genetics|November 26, 2020
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in HumansFatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, et al.
Human Molecular Genetics|March 24, 2017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyDevon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, et al.
Pageof 24

Showing results (151-160 of 239) with videos related to

Sort By:
Pageof 24
Clinical Genetics|June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort StudyAlexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Clinical Therapeutics|July 15, 2023
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic ConditionsWendy J Ungar, Robin Z Hayeems, Christian R Marshall, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasiaGabrielle Lemire, Bixia Zheng, Grace U Ediae, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Plos Genetics|January 23, 2016
Consent Codes: Upholding Standard Data Use ConditionsStephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
CMAJ Open|May 24, 2022
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing OntarioRobin Z Hayeems, Christian R Marshall, Meredith K Gillespie, et al.
American Journal of Human Genetics|November 26, 2020
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in HumansFatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, et al.
Human Molecular Genetics|March 24, 2017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyDevon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, et al.
Pageof 24