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Thomas Edouard

Showing results (61-70 of 80) with videos related to

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Journal of Medical Genetics|September 2, 2016
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromePauline Arnaud, Nadine Hanna, Mélodie Aubart, et al.
Archives of Cardiovascular Diseases|November 19, 2019
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndromeSebastien Hascoet, Thomas Edouard, Julie Plaisancie, et al.
European Journal of Endocrinology|February 24, 2016
Growth patterns of patients with Noonan syndrome: correlation with age and genotypeCatie Cessans, Virginie Ehlinger, Catherine Arnaud, et al.
European Journal of Endocrinology|October 13, 2023
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort studyEmese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesityMylène Tajan, Aurélie Batut, Thomas Cadoudal, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
European Journal of Endocrinology|October 17, 2025
EndoCompass project: research roadmap for growth disordersEvelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Pageof 8

Showing results (61-70 of 80) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|September 2, 2016
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromePauline Arnaud, Nadine Hanna, Mélodie Aubart, et al.
Archives of Cardiovascular Diseases|November 19, 2019
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndromeSebastien Hascoet, Thomas Edouard, Julie Plaisancie, et al.
European Journal of Endocrinology|February 24, 2016
Growth patterns of patients with Noonan syndrome: correlation with age and genotypeCatie Cessans, Virginie Ehlinger, Catherine Arnaud, et al.
European Journal of Endocrinology|October 13, 2023
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort studyEmese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesityMylène Tajan, Aurélie Batut, Thomas Cadoudal, et al.
American Journal of Human Genetics|December 1, 2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, et al.
European Journal of Endocrinology|October 17, 2025
EndoCompass project: research roadmap for growth disordersEvelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Pageof 8