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Patrick Berquin

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Nature Neuroscience|May 27, 2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMichel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
The Journal of Pediatrics|June 18, 2010
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhoodLaurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Nature Neuroscience|May 27, 2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMichel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Epilepsy & Behavior : E&B|December 16, 2021
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathyClaire Bar, Delphine Breuillard, Mathieu Kuchenbuch, et al.
The Journal of Pediatrics|June 18, 2010
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhoodLaurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Human Mutation|September 13, 2019
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureClaire Bar, Giulia Barcia, Mélanie Jennesson, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 5