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Showing results (191-200 of 205) with videos related to

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American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Pageof 21

Showing results (191-200 of 205) with videos related to

Sort By:
Pageof 21
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fissionSylvie Gerber, Majida Charif, Arnaud Chevrollier, et al.
Molecular Psychiatry|April 19, 2017
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouseD C Ung, G Iacono, H Méziane, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Pageof 21