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Patrick Calvas

Showing results (61-70 of 97) with videos related to

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Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
The Lancet. Neurology|January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialGiulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Investigative Ophthalmology & Visual Science|August 20, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex MicrophthalmiaJulie Plaisancié, Clémentine Angée, Elisa Erjavec, et al.
Nature Communications|October 25, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye developmentFabiola Ceroni, Munevver B Cicekdal, Richard Holt, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasiaJulie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, et al.
American Journal of Human Genetics|September 18, 2024
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopiaElisa Erjavec, Clémentine Angée, Djihad Hadjadj, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
Pageof 10

Showing results (61-70 of 97) with videos related to

Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
The Lancet. Neurology|January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialGiulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Investigative Ophthalmology & Visual Science|August 20, 2025
Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex MicrophthalmiaJulie Plaisancié, Clémentine Angée, Elisa Erjavec, et al.
Nature Communications|October 25, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye developmentFabiola Ceroni, Munevver B Cicekdal, Richard Holt, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasiaJulie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, et al.
American Journal of Human Genetics|September 18, 2024
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopiaElisa Erjavec, Clémentine Angée, Djihad Hadjadj, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyIsabelle Perrault, Sylvain Hanein, Xavier Zanlonghi, et al.
Pageof 10