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Sylvie Gerber

Showing results (11-20 of 31) with videos related to

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Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.
European Journal of Human Genetics : EJHG|August 9, 2007
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked exampleSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
EMBO Molecular Medicine|July 11, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophySylvie Gerber, Lola Lessard, Cécile Rouzier, et al.
Biochimica Et Biophysica Acta|March 19, 2013
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membraneSylvain Hanein, Mathilde Garcia, Lucas Fares-Taie, et al.
Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Human Mutation|January 28, 2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Sylvain Hanein, Xavier Gerard, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
American Journal of Human Genetics|March 31, 2009
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophySylvain Hanein, Isabelle Perrault, Olivier Roche, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.
European Journal of Human Genetics : EJHG|August 9, 2007
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked exampleSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
EMBO Molecular Medicine|July 11, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophySylvie Gerber, Lola Lessard, Cécile Rouzier, et al.
Biochimica Et Biophysica Acta|March 19, 2013
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membraneSylvain Hanein, Mathilde Garcia, Lucas Fares-Taie, et al.
Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.
Human Mutation|March 17, 2004
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
Human Mutation|January 28, 2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotypeIsabelle Perrault, Sylvain Hanein, Xavier Gerard, et al.
Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.
American Journal of Human Genetics|March 31, 2009
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophySylvain Hanein, Isabelle Perrault, Olivier Roche, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.
Pageof 4