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Josseline Kaplan

Showing results (1-10 of 83) with videos related to

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Ophthalmic Genetics|September 4, 2008
Leber congenital amaurosis: from darkness to spotlightJosseline Kaplan
Human Mutation|November 25, 2003
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in FranceEvelyne Colomb, Josseline Kaplan, Henri-Jean Garchon
Bulletin De L'Academie Nationale De Medecine|March 29, 2014
[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum]Jean-Louis Dufier, Jean-Michel Rozet, Josseline Kaplan, et al.
Advances in Experimental Medicine and Biology|December 30, 2019
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing LossSabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, et al.
Molecular Therapy. Nucleic Acids|September 2, 2015
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal CellsXavier Gérard, Isabelle Perrault, Arnold Munnich, et al.
Genes|April 30, 2021
<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic NeuropathySylvie Gerber, Christophe Orssaud, Josseline Kaplan, et al.
European Journal of Human Genetics : EJHG|August 10, 2006
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophyDominique Ducroq, Stavit Shalev, Aviv Habib, et al.
Brain : a Journal of Neurology|April 18, 2023
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigmGuy Lenaers, Cléis Beaulieu, Majida Charif, et al.
Ophthalmic Genetics|June 7, 2006
Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDaltonChristine E Parc, Elodie Azan, Sébastien Bonnel, 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 9

Showing results (1-10 of 83) with videos related to

Sort By:
Pageof 9
Ophthalmic Genetics|September 4, 2008
Leber congenital amaurosis: from darkness to spotlightJosseline Kaplan
Human Mutation|November 25, 2003
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in FranceEvelyne Colomb, Josseline Kaplan, Henri-Jean Garchon
Bulletin De L'Academie Nationale De Medecine|March 29, 2014
[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum]Jean-Louis Dufier, Jean-Michel Rozet, Josseline Kaplan, et al.
Advances in Experimental Medicine and Biology|December 30, 2019
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing LossSabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, et al.
Molecular Therapy. Nucleic Acids|September 2, 2015
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal CellsXavier Gérard, Isabelle Perrault, Arnold Munnich, et al.
Genes|April 30, 2021
<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic NeuropathySylvie Gerber, Christophe Orssaud, Josseline Kaplan, et al.
European Journal of Human Genetics : EJHG|August 10, 2006
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophyDominique Ducroq, Stavit Shalev, Aviv Habib, et al.
Brain : a Journal of Neurology|April 18, 2023
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigmGuy Lenaers, Cléis Beaulieu, Majida Charif, et al.
Ophthalmic Genetics|June 7, 2006
Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDaltonChristine E Parc, Elodie Azan, Sébastien Bonnel, 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 9