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

Pagnamenta

Showing results (211-220 of 265) with videos related to

Pageof 27
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Heart Rhythm|February 11, 2026
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECGCarin de Villiers, Elizabeth Ormondroyd, Kate Thomson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Biological Psychiatry|March 30, 2010
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexiaAlistair T Pagnamenta, Elena Bacchelli, Maretha V de Jonge, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Science Advances|December 3, 2021
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiencyIoanna A Rota, Adam E Handel, Stefano Maio, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Pageof 27

Showing results (211-220 of 265) with videos related to

Sort By:
Pageof 27
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Heart Rhythm|February 11, 2026
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECGCarin de Villiers, Elizabeth Ormondroyd, Kate Thomson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Biological Psychiatry|March 30, 2010
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexiaAlistair T Pagnamenta, Elena Bacchelli, Maretha V de Jonge, et al.
American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.
Science Advances|December 3, 2021
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiencyIoanna A Rota, Adam E Handel, Stefano Maio, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.
Pageof 27