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Bertrand Isidor

Showing results (21-30 of 365) with videos related to

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Joint Bone Spine|March 5, 2013
Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1Anne Savoie, François Gouin, Yves Maugars, et al.
European Journal of Human Genetics : EJHG|May 10, 2019
Population genetic screening: current issues in a European countryLaurent Pasquier, Bertrand Isidor, Emmanuelle Rial-Sebbag, et al.
European Journal of Pediatrics|October 12, 2012
Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel findingAlexis Chenouard, Bertrand Isidor, Emma Allain-Launay, et al.
JIMD Reports|February 23, 2013
Expanding the Spectrum of PMM2-CDG PhenotypeSandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Patients with isolated oligo/hypodontia caused by RUNX2 duplicationArnaud Molin, Serena Lopez-Cazaux, Olivier Pichon, et al.
Cells|September 16, 2020
Ribosomopathies: New Therapeutic PerspectivesEmilien Orgebin, François Lamoureux, Bertrand Isidor, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelinationKeiko Shimojima, Bertrand Isidor, Cédric Le Caignec, et al.
Genes & Diseases|September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectivesSilvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophyBertrand Isidor, Sabine Baron, Philippe Khau van Kien, et al.
Pageof 37

Showing results (21-30 of 365) with videos related to

Sort By:
Pageof 37
Joint Bone Spine|March 5, 2013
Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1Anne Savoie, François Gouin, Yves Maugars, et al.
European Journal of Human Genetics : EJHG|May 10, 2019
Population genetic screening: current issues in a European countryLaurent Pasquier, Bertrand Isidor, Emmanuelle Rial-Sebbag, et al.
European Journal of Pediatrics|October 12, 2012
Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel findingAlexis Chenouard, Bertrand Isidor, Emma Allain-Launay, et al.
JIMD Reports|February 23, 2013
Expanding the Spectrum of PMM2-CDG PhenotypeSandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Patients with isolated oligo/hypodontia caused by RUNX2 duplicationArnaud Molin, Serena Lopez-Cazaux, Olivier Pichon, et al.
Cells|September 16, 2020
Ribosomopathies: New Therapeutic PerspectivesEmilien Orgebin, François Lamoureux, Bertrand Isidor, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelinationKeiko Shimojima, Bertrand Isidor, Cédric Le Caignec, et al.
Genes & Diseases|September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectivesSilvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophyBertrand Isidor, Sabine Baron, Philippe Khau van Kien, et al.
Pageof 37