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Rima Nabbout

Showing results (301-310 of 310) with videos related to

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Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Epilepsia|January 17, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies, Costin Leu, Carolien G F de Kovel, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Human Molecular Genetics|September 6, 2012
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32, , Michael Steffens, et al.
The Lancet. Neurology|July 24, 2018
Rare coding variants in genes encoding GABA<sub>A</sub> receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 31

Showing results (301-310 of 310) with videos related to

Sort By:
Pageof 31
You have reached the last page of results.This site can display upto 310 results.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Epilepsia|January 17, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies, Costin Leu, Carolien G F de Kovel, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Human Molecular Genetics|September 6, 2012
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32, , Michael Steffens, et al.
The Lancet. Neurology|July 24, 2018
Rare coding variants in genes encoding GABA<sub>A</sub> receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 31