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Christian P Hamel

Showing results (11-20 of 101) with videos related to

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Molecular Genetics and Metabolism|February 22, 2002
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial diseaseCécile Delettre, Guy Lenaers, Laeticia Pelloquin, et al.
Plos One|July 4, 2017
Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retinaAurélie Cubizolle, Laurent Guillou, Bertrand Mollereau, et al.
European Journal of Ophthalmology|December 20, 2011
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed Ksantini, Estèle Lafont, Béatrice Bocquet, et al.
Ophthalmic Genetics|April 25, 2007
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseasesMohamed Ksantini, Audrey Sénéchal, Ghyslaine Humbert, et al.
Ophthalmic Genetics|November 12, 2010
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variationsMohamed Ksantini, Audrey Sénéchal, Béatrice Bocquet, et al.
Ophthalmic Research|November 6, 2010
Simple and efficient: validation of a cotton wick electrode for animal electroretinographyKarim Chekroud, Carl Arndt, Danièle Basset, et al.
Ophthalmology|August 4, 2004
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65Birgit Lorenz, Bettina Wabbels, Erika Wegscheider, et al.
Frontiers in Genetics|November 6, 2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disabilityMajida Charif, Agathe Roubertie, Sara Salime, et al.
JAMA Ophthalmology|August 10, 2013
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1Elodie Dessalces, Béatrice Bocquet, Jérôme Bourien, et al.
Retinal Cases & Brief Reports|May 21, 2016
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13Sarah Perez-Roustit, Virginie Marquette, Béatrice Bocquet, et al.
Pageof 11

Showing results (11-20 of 101) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|February 22, 2002
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial diseaseCécile Delettre, Guy Lenaers, Laeticia Pelloquin, et al.
Plos One|July 4, 2017
Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retinaAurélie Cubizolle, Laurent Guillou, Bertrand Mollereau, et al.
European Journal of Ophthalmology|December 20, 2011
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed Ksantini, Estèle Lafont, Béatrice Bocquet, et al.
Ophthalmic Genetics|April 25, 2007
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseasesMohamed Ksantini, Audrey Sénéchal, Ghyslaine Humbert, et al.
Ophthalmic Genetics|November 12, 2010
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variationsMohamed Ksantini, Audrey Sénéchal, Béatrice Bocquet, et al.
Ophthalmic Research|November 6, 2010
Simple and efficient: validation of a cotton wick electrode for animal electroretinographyKarim Chekroud, Carl Arndt, Danièle Basset, et al.
Ophthalmology|August 4, 2004
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65Birgit Lorenz, Bettina Wabbels, Erika Wegscheider, et al.
Frontiers in Genetics|November 6, 2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disabilityMajida Charif, Agathe Roubertie, Sara Salime, et al.
JAMA Ophthalmology|August 10, 2013
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1Elodie Dessalces, Béatrice Bocquet, Jérôme Bourien, et al.
Retinal Cases & Brief Reports|May 21, 2016
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13Sarah Perez-Roustit, Virginie Marquette, Béatrice Bocquet, et al.
Pageof 11