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Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Annals of Neurology
|
September 11, 2009
Inhibitory actions of the gamma-aminobutyric acid in pediatric Sturge-Weber syndrome
Roman Tyzio, Ilgam Khalilov, Alfonso Represa, et al.
Journal of Epidemiology and Population Health
|
March 29, 2025
Initiative to federate research contributors: The Polyhandicap REsearch NEtwork PolyRENE
Karine Baumstarck, Vincent Gautheron, Hugo Bessaguet, et al.
Neurology. Genetics
|
December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.
European Journal of Pediatrics
|
April 18, 2021
Consensus statements on the information to deliver after a febrile seizure
Anna Loussouarn, Anita Devlin, Thomas Bast, et al.
Epilepsia
|
August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
Gaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
Archives of Neurology
|
August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
Yoann Saillour, Nathalie Carion, Chloé Quelin, et al.
International Journal of Molecular Sciences
|
August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Maude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
Frontiers in Neurology
|
March 6, 2026
<i>CTNNB1-</i>related disorders: clinical and radiological contributions from a French cohort
Eline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.
Neurobiology of Disease
|
May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Page
of 14
Search research articles
Search
Showing results (91-100 of 138) with videos related to
Sort By:
Page
of 14
Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Annals of Neurology
|
September 11, 2009
Inhibitory actions of the gamma-aminobutyric acid in pediatric Sturge-Weber syndrome
Roman Tyzio, Ilgam Khalilov, Alfonso Represa, et al.
Journal of Epidemiology and Population Health
|
March 29, 2025
Initiative to federate research contributors: The Polyhandicap REsearch NEtwork PolyRENE
Karine Baumstarck, Vincent Gautheron, Hugo Bessaguet, et al.
Neurology. Genetics
|
December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.
European Journal of Pediatrics
|
April 18, 2021
Consensus statements on the information to deliver after a febrile seizure
Anna Loussouarn, Anita Devlin, Thomas Bast, et al.
Epilepsia
|
August 27, 2010
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
Gaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, et al.
Archives of Neurology
|
August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
Yoann Saillour, Nathalie Carion, Chloé Quelin, et al.
International Journal of Molecular Sciences
|
August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
Maude Vecten, Emmanuelle Pion, Marc Bartoli, et al.
Frontiers in Neurology
|
March 6, 2026
<i>CTNNB1-</i>related disorders: clinical and radiological contributions from a French cohort
Eline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.
Neurobiology of Disease
|
May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Affef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Page
of 14