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European Journal of Human Genetics : EJHG
|
July 7, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
Marion Aubert Mucca, Roberto Mendoza-Londono, Valérie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2021
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 6, 2022
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults
Gaëlle Nannette, Céline Bar, Gwenaëlle Diene, et al.
Human Molecular Genetics
|
December 7, 2021
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Caroline Caetano da Silva, Thomas Edouard, Melanie Fradin, et al.
Molecular and Cellular Biology
|
March 24, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling
Thomas Edouard, Jean-Philippe Combier, Audrey Nédélec, et al.
Molecular Genetics & Genomic Medicine
|
March 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Bertrand Chesneau, Thomas Edouard, Yves Dulac, et al.
European Journal of Endocrinology
|
October 17, 2018
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency
Sophie Moniez, Catherine Pienkowski, Benoit Lepage, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 29, 2012
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
Audrey De Rocca Serra-Nédélec, Thomas Edouard, Karine Tréguer, et al.
European Journal of Pediatrics
|
December 1, 2025
Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency
Karine Aouchiche, Sarah Castets, Isabelle Oliver Petit, et al.
Scoliosis
|
December 23, 2009
The International Research Society of Spinal Deformities (IRSSD) and its contribution to science
Keith M Bagnall, Theodoros B Grivas, Nathalie Alos, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 80) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
July 7, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
Marion Aubert Mucca, Roberto Mendoza-Londono, Valérie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2021
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 6, 2022
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults
Gaëlle Nannette, Céline Bar, Gwenaëlle Diene, et al.
Human Molecular Genetics
|
December 7, 2021
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Caroline Caetano da Silva, Thomas Edouard, Melanie Fradin, et al.
Molecular and Cellular Biology
|
March 24, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling
Thomas Edouard, Jean-Philippe Combier, Audrey Nédélec, et al.
Molecular Genetics & Genomic Medicine
|
March 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Bertrand Chesneau, Thomas Edouard, Yves Dulac, et al.
European Journal of Endocrinology
|
October 17, 2018
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency
Sophie Moniez, Catherine Pienkowski, Benoit Lepage, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 29, 2012
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
Audrey De Rocca Serra-Nédélec, Thomas Edouard, Karine Tréguer, et al.
European Journal of Pediatrics
|
December 1, 2025
Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency
Karine Aouchiche, Sarah Castets, Isabelle Oliver Petit, et al.
Scoliosis
|
December 23, 2009
The International Research Society of Spinal Deformities (IRSSD) and its contribution to science
Keith M Bagnall, Theodoros B Grivas, Nathalie Alos, et al.
Page
of 8