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Thomas Edouard

Showing results (41-50 of 80) with videos related to

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Plos One|November 13, 2015
Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial PresentationCéline Bar, Charline Zadro, Gwenaelle Diene, et al.
Hormone Research in Paediatrics|October 29, 2020
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French SeriesClaire Flot, Valérie Porquet-Bordes, Justine Bacchetta, et al.
Clinical Genetics|March 23, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndromeMarion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes, et al.
European Journal of Medical Genetics|November 10, 2021
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across EuropeSixto García-Miñaúr, Emma Burkitt-Wright, Alain Verloes, et al.
European Journal of Medical Genetics|December 13, 2021
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice surveyThomas Edouard, Martin Zenker, Ingegerd Östman-Smith, et al.
Orphanet Journal of Rare Diseases|February 4, 2026
A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of lifeThomas Edouard, Fernanda Bajanca, Clara Flumian, et al.
Human Molecular Genetics|April 17, 2018
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growthMylène Tajan, Julie Pernin-Grandjean, Nicolas Beton, et al.
Blood|September 29, 2019
Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functionsMarie Bellio, Cédric Garcia, Thomas Edouard, et al.
Molecular Genetics & Genomic Medicine|October 21, 2021
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus ArteriosusBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2017
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restrictionWalid Abi Habib, Frédéric Brioude, Thomas Edouard, et al.
Pageof 8

Showing results (41-50 of 80) with videos related to

Sort By:
Pageof 8
Plos One|November 13, 2015
Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial PresentationCéline Bar, Charline Zadro, Gwenaelle Diene, et al.
Hormone Research in Paediatrics|October 29, 2020
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French SeriesClaire Flot, Valérie Porquet-Bordes, Justine Bacchetta, et al.
Clinical Genetics|March 23, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndromeMarion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes, et al.
European Journal of Medical Genetics|November 10, 2021
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across EuropeSixto García-Miñaúr, Emma Burkitt-Wright, Alain Verloes, et al.
European Journal of Medical Genetics|December 13, 2021
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice surveyThomas Edouard, Martin Zenker, Ingegerd Östman-Smith, et al.
Orphanet Journal of Rare Diseases|February 4, 2026
A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of lifeThomas Edouard, Fernanda Bajanca, Clara Flumian, et al.
Human Molecular Genetics|April 17, 2018
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growthMylène Tajan, Julie Pernin-Grandjean, Nicolas Beton, et al.
Blood|September 29, 2019
Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functionsMarie Bellio, Cédric Garcia, Thomas Edouard, et al.
Molecular Genetics & Genomic Medicine|October 21, 2021
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus ArteriosusBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2017
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restrictionWalid Abi Habib, Frédéric Brioude, Thomas Edouard, et al.
Pageof 8