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

Patrick May

Showing results (171-180 of 209) with videos related to

Pageof 21
Sort By:
Nature Communications|October 20, 2020
Integration of time-series meta-omics data reveals how microbial ecosystems respond to disturbanceMalte Herold, Susana Martínez Arbas, Shaman Narayanasamy, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.
Nature Communications|December 19, 2015
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51Najim Ameziane, Patrick May, Anneke Haitjema, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Science Translational Medicine|September 10, 2020
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's diseaseIbrahim Boussaad, Carolin D Obermaier, Zoé Hanss, et al.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Pageof 21

Showing results (171-180 of 209) with videos related to

Sort By:
Pageof 21
Nature Communications|October 20, 2020
Integration of time-series meta-omics data reveals how microbial ecosystems respond to disturbanceMalte Herold, Susana Martínez Arbas, Shaman Narayanasamy, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
Brain : a Journal of Neurology|September 20, 2015
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasiaKatia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, et al.
Nature Genetics|June 27, 2018
De novo variants in neurodevelopmental disorders with epilepsyHenrike O Heyne, Tarjinder Singh, Hannah Stamberger, et al.
Plos One|March 19, 2016
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesDennis Lal, Eva M Reinthaler, Borislav Dejanovic, et al.
Nature Communications|December 19, 2015
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51Najim Ameziane, Patrick May, Anneke Haitjema, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Genome Medicine|March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disordersDennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Science Translational Medicine|September 10, 2020
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's diseaseIbrahim Boussaad, Carolin D Obermaier, Zoé Hanss, et al.
Ebiomedicine|April 16, 2025
Genome-wide association meta-analyses of drug-resistant epilepsyCostin Leu, Andreja Avbersek, Remi Stevelink, et al.
Pageof 21