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

Jozef Gecz

Showing results (131-140 of 245) with videos related to

Pageof 25
Sort By:
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 13, 2025
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approachSilvia Masnada, Valentina De Giorgis, Umberto Carugo, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Human Molecular Genetics|October 12, 2014
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisMariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, et al.
Nature|February 21, 2024
WNT signalling control by KDM5C during development affects cognitionVioletta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Nature Communications|November 21, 2025
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral PalsyYiran Xu, Chi Ma, Yanyan Sun, et al.
Pageof 25

Showing results (131-140 of 245) with videos related to

Sort By:
Pageof 25
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 13, 2025
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approachSilvia Masnada, Valentina De Giorgis, Umberto Carugo, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Human Molecular Genetics|October 12, 2014
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisMariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, et al.
Nature|February 21, 2024
WNT signalling control by KDM5C during development affects cognitionVioletta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Nature Communications|November 21, 2025
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral PalsyYiran Xu, Chi Ma, Yanyan Sun, et al.
Pageof 25