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Christian Hamel

Showing results (51-60 of 74) with videos related to

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The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Science Signaling|October 25, 2018
ER-mitochondria cross-talk is regulated by the Ca<sup>2+</sup> sensor NCS1 and is impaired in Wolfram syndromeClaire Angebault, Jérémy Fauconnier, Simone Patergnani, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Annals of Neurology|October 22, 2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, 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.
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.
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.
Pageof 8

Showing results (51-60 of 74) with videos related to

Sort By:
Pageof 8
The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Science Signaling|October 25, 2018
ER-mitochondria cross-talk is regulated by the Ca<sup>2+</sup> sensor NCS1 and is impaired in Wolfram syndromeClaire Angebault, Jérémy Fauconnier, Simone Patergnani, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Annals of Neurology|October 22, 2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, 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.
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.
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.
Pageof 8