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Nicolas Chassaing

Showing results (61-70 of 101) with videos related to

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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.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, 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.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.
European Journal of Human Genetics : EJHG|April 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlationsSolomon S Merepa, Linda M Reis, Alejandra Damián, et al.
Human Mutation|July 2, 2016
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling PathwayChristèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
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.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, 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.
Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.
European Journal of Human Genetics : EJHG|April 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlationsSolomon S Merepa, Linda M Reis, Alejandra Damián, et al.
Human Mutation|July 2, 2016
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling PathwayChristèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, et al.
Pageof 11