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Christian Hamel

Showing results (31-40 of 74) with videos related to

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Molecular Vision|June 25, 2014
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaPaola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, et al.
Pediatric Research|June 29, 2007
The ocular anomalies in a cystinosis animal model mimic disease pathogenesisVasiliki Kalatzis, Nicolas Serratrice, Claire Hippert, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaBozena Polok, Pascal Escher, Aude Ambresin, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Human Molecular Genetics|May 18, 2018
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal diseaseIris Barny, Isabelle Perrault, Christel Michel, et al.
Molecular Vision|May 28, 2011
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsFlorence Niel-Butschi, Bernadette Kantelip, Justyna Iwaszkiewicz, et al.
Journal of Cellular Physiology|December 15, 2006
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesisAurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, et al.
Biochimica Et Biophysica Acta|June 2, 2006
Mitochondrial dynamics and disease, OPA1Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Molecular Vision|June 25, 2014
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaPaola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, et al.
Pediatric Research|June 29, 2007
The ocular anomalies in a cystinosis animal model mimic disease pathogenesisVasiliki Kalatzis, Nicolas Serratrice, Claire Hippert, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaBozena Polok, Pascal Escher, Aude Ambresin, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Human Molecular Genetics|May 18, 2018
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal diseaseIris Barny, Isabelle Perrault, Christel Michel, et al.
Molecular Vision|May 28, 2011
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutationsFlorence Niel-Butschi, Bernadette Kantelip, Justyna Iwaszkiewicz, et al.
Journal of Cellular Physiology|December 15, 2006
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesisAurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, et al.
Biochimica Et Biophysica Acta|June 2, 2006
Mitochondrial dynamics and disease, OPA1Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 8