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G Lesca

Showing results (21-30 of 41) with videos related to

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European Journal of Medical Genetics|October 10, 2022
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genesZ Gokce-Samar, J de Bellescize, A Arzimanoglou, et al.
Revue Neurologique|March 12, 2002
[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity]G Lesca, I Cournu-Rebeix, A Azoulay-Cayla, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 30, 2007
[Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]G Lesca, H Testard, N Streichenberger, et al.
Revue Neurologique|September 19, 2003
[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]G Lesca, G Demarquay, S Llense, et al.
Plos One|December 30, 2022
Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological studyS Bally, J Cottin, M C Gagnieu, et al.
Clinical Genetics|January 17, 2017
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's diseaseN Chatron, G Lesca, A Labalme, et al.
BMC Bioinformatics|March 3, 2017
Statistical method to compare massive parallel sequencing pipelinesM H Elsensohn, N Leblay, S Dimassi, et al.
Genes and Immunity|October 11, 2003
Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosisI Cournu-Rebeix, E Génin, G Lesca, et al.
European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 10, 2025
Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathyR van Heurck, E B Hammar, D Ville, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|October 10, 2022
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genesZ Gokce-Samar, J de Bellescize, A Arzimanoglou, et al.
Revue Neurologique|March 12, 2002
[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity]G Lesca, I Cournu-Rebeix, A Azoulay-Cayla, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 30, 2007
[Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]G Lesca, H Testard, N Streichenberger, et al.
Revue Neurologique|September 19, 2003
[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]G Lesca, G Demarquay, S Llense, et al.
Plos One|December 30, 2022
Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological studyS Bally, J Cottin, M C Gagnieu, et al.
Clinical Genetics|January 17, 2017
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's diseaseN Chatron, G Lesca, A Labalme, et al.
BMC Bioinformatics|March 3, 2017
Statistical method to compare massive parallel sequencing pipelinesM H Elsensohn, N Leblay, S Dimassi, et al.
Genes and Immunity|October 11, 2003
Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosisI Cournu-Rebeix, E Génin, G Lesca, et al.
European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 10, 2025
Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathyR van Heurck, E B Hammar, D Ville, et al.
Pageof 5