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Dominique Bonneau

Showing results (191-200 of 253) with videos related to

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American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Brain : a Journal of Neurology|December 26, 2007
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Brain : a Journal of Neurology|February 11, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesLouise Devisme, Céline Bouchet, Marie Gonzalès, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, 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.
Pageof 26

Showing results (191-200 of 253) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
Brain : a Journal of Neurology|December 26, 2007
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesPatrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Brain : a Journal of Neurology|February 11, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathiesLouise Devisme, Céline Bouchet, Marie Gonzalès, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 23, 2013
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureEdouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, 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.
Pageof 26