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Catherine Vincent

Showing results (121-130 of 188) with videos related to

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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.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Journal of Hepatology|March 25, 2024
Treatment response and clinical event-free survival in autoimmune hepatitis: A Canadian multicentre cohort studyChristina G Plagiannakos, Gideon M Hirschfield, Ellina Lytvyak, et al.
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Canadian Liver Journal|August 22, 2022
Single Topic Conference on Autoimmune Liver Disease from the Canadian Association for the Study of the LiverAldo J Montano-Loza, Jessica R Allegretti, Angela Cheung, et al.
Hepatology (Baltimore, Md.)|February 27, 2022
Ethnicity, disease severity, and survival in Canadian patients with primary biliary cholangitisSurain B Roberts, Gideon M Hirschfield, Lawrence J Worobetz, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Pageof 19

Showing results (121-130 of 188) with videos related to

Sort By:
Pageof 19
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.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Journal of Hepatology|March 25, 2024
Treatment response and clinical event-free survival in autoimmune hepatitis: A Canadian multicentre cohort studyChristina G Plagiannakos, Gideon M Hirschfield, Ellina Lytvyak, et al.
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Canadian Liver Journal|August 22, 2022
Single Topic Conference on Autoimmune Liver Disease from the Canadian Association for the Study of the LiverAldo J Montano-Loza, Jessica R Allegretti, Angela Cheung, et al.
Hepatology (Baltimore, Md.)|February 27, 2022
Ethnicity, disease severity, and survival in Canadian patients with primary biliary cholangitisSurain B Roberts, Gideon M Hirschfield, Lawrence J Worobetz, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
American Journal of Medical Genetics. Part A|August 4, 2021
Expanding the KIF4A-associated phenotypeSilvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Pageof 19