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Bone Reports
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June 25, 2021
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, et al.
European Journal of Medical Genetics
|
November 26, 2009
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Thomas Edouard, Catherine Prost-Squarcioni, Yves Dulac, et al.
Bone Reports
|
March 7, 2022
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre
Coline Rouleau, Margaux Malorie, Corinne Collet, et al.
Biomedicines
|
September 23, 2022
The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?
Céline Saint-Laurent, Laurène Mazeyrie, Mylène Tajan, et al.
Joint Bone Spine
|
September 17, 2021
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study
Aurore Le Quellec, Thomas Edouard, Séverine Audebert-Bellanger, et al.
European Journal of Endocrinology
|
October 6, 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency
Rachel Fourneaux, Rachel Reynaud, Gregory Mougel, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 7, 2015
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype
Elsa Haine, Jean-Pierre Salles, Philippe Khau Van Kien, et al.
European Journal of Medical Genetics
|
November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
Cordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
Bone
|
September 7, 2021
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Marine Delagrange, Vanessa Rousseau, Catie Cessans, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2024
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 80) with videos related to
Sort By:
Page
of 8
Bone Reports
|
June 25, 2021
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, et al.
European Journal of Medical Genetics
|
November 26, 2009
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
Thomas Edouard, Catherine Prost-Squarcioni, Yves Dulac, et al.
Bone Reports
|
March 7, 2022
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre
Coline Rouleau, Margaux Malorie, Corinne Collet, et al.
Biomedicines
|
September 23, 2022
The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?
Céline Saint-Laurent, Laurène Mazeyrie, Mylène Tajan, et al.
Joint Bone Spine
|
September 17, 2021
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study
Aurore Le Quellec, Thomas Edouard, Séverine Audebert-Bellanger, et al.
European Journal of Endocrinology
|
October 6, 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency
Rachel Fourneaux, Rachel Reynaud, Gregory Mougel, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 7, 2015
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype
Elsa Haine, Jean-Pierre Salles, Philippe Khau Van Kien, et al.
European Journal of Medical Genetics
|
November 10, 2021
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists
Cordula M Wolf, Martin Zenker, Emma Burkitt-Wright, et al.
Bone
|
September 7, 2021
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Marine Delagrange, Vanessa Rousseau, Catie Cessans, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2024
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, et al.
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of 8