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Dominique Bonneau

Showing results (151-160 of 253) with videos related to

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Investigative Ophthalmology & Visual Science|February 17, 2018
A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and PolyaminesStéphanie Leruez, Thomas Bresson, Juan M Chao de la Barca, et al.
Journal of Cell Science|April 21, 2017
CLUH couples mitochondrial distribution to the energetic and metabolic statusJamal Wakim, David Goudenege, Rodolphe Perrot, et al.
Human Mutation|February 13, 2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
BMC Medical Genetics|May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
Pageof 26

Showing results (151-160 of 253) with videos related to

Sort By:
Pageof 26
Investigative Ophthalmology & Visual Science|February 17, 2018
A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and PolyaminesStéphanie Leruez, Thomas Bresson, Juan M Chao de la Barca, et al.
Journal of Cell Science|April 21, 2017
CLUH couples mitochondrial distribution to the energetic and metabolic statusJamal Wakim, David Goudenege, Rodolphe Perrot, et al.
Human Mutation|February 13, 2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
BMC Medical Genetics|May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
Pageof 26