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

Christopher Campbell

Showing results (81-90 of 86) with videos related to

Pageof 9
Sort By:
You have reached the last page of results.This site can display upto 86 results.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Human Molecular Genetics|March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionJoel Smith, Martin L Read, Jon Hoffman, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
Nature Communications|July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activityAleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.
Pageof 9

Showing results (81-90 of 86) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 86 results.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Human Molecular Genetics|March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expressionJoel Smith, Martin L Read, Jon Hoffman, et al.
Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
Nature Communications|July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activityAleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.
Pageof 9