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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 Microphthalmia
Julie 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 development
Fabiola 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 dysplasia
Julie 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 study
Laurélia 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 study
Christina 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 Review
Cindy 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 Liver
Aldo 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 cholangitis
Surain 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 retardation
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
American Journal of Medical Genetics. Part A
|
August 4, 2021
Expanding the KIF4A-associated phenotype
Silvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
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of 19
Search research articles
Search
Showing results (121-130 of 188) with videos related to
Sort By:
Page
of 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 Microphthalmia
Julie 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 development
Fabiola 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 dysplasia
Julie 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 study
Laurélia 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 study
Christina 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 Review
Cindy 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 Liver
Aldo 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 cholangitis
Surain 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 retardation
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
American Journal of Medical Genetics. Part A
|
August 4, 2021
Expanding the KIF4A-associated phenotype
Silvia Kalantari, Colleen Carlston, Norah Alsaleh, et al.
Page
of 19