文献
J-GLOBAL ID:201902282267793316
整理番号:19A2221424
Pycnodysostosis:27フランスの症例からの自然史と管理ガイドラインおよび文献レビュー【JST・京大機械翻訳】
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
著者 (17件):
Bizaoui Varoona
(Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cite University, INSERM UMR 1163, Instititut Imagine, Hopital Necker Enfants Malades, Paris, France)
,
Michot Caroline
(Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cite University, INSERM UMR 1163, Instititut Imagine, Hopital Necker Enfants Malades, Paris, France)
,
Baujat Genevieve
(Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cite University, INSERM UMR 1163, Instititut Imagine, Hopital Necker Enfants Malades, Paris, France)
,
Amouroux Cyril
(Department of Paediatric Endocrinology, Arnaud de Villeneuve Hospital, Montpellier, France)
,
Baron Sabine
(Service de Genetique Medicale, CHU de Nantes, Nantes, France)
,
Capri Yline
(Genetics Department, AP-HP, Robert-Debre University Hospital, Paris, France)
,
Cohen-Solal Martine
(Department of Rheumatology, Lariboisiere Hospital, INSERM U1132 and University Paris-Diderot, Paris, France)
,
Collet Corinne
(Department of Biochemistry, APHP, Saint-Louis Lariboisiere Hospitals, Paris, France)
,
Dieux Anne
(Centre de Reference CLAD NdF, Service de Genetique Clinique, Hopital Jeanne de Flandre, CHU Lille, France)
,
Genevieve David
(Service de Genetique Clinique et du Departement de Genetique Medicale, Maladies Rares et Medecine Personnalisee, Centre de Competence Maladies Osseuses Constitutionnelles, Inserm U1183, Universite Montpellier, Montpellier, France)
,
Isidor Bertrand
(Service de Genetique Medicale, CHU de Nantes, Nantes, France)
,
Monnot Sophie
(Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cite University, INSERM UMR 1163, Instititut Imagine, Hopital Necker Enfants Malades, Paris, France)
,
Rossi Massimiliano
(Hospices Civils de Lyon, Service de Genetique, Centre de Reference Anomalies du Developpement, Bron, France)
,
Rossi Massimiliano
(Centre de Recherche en Neurosciences de Lyon, INSERM U1028, CNRS UMR5292, UCB Lyon 1, Lyon, France)
,
Rothenbuhler Anya
(Department of Paediatric Endocrinology, Bicetre Hospital, Paris, France)
,
Schaefer Elise
(Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France)
,
Cormier-Daire Valerie
(Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cite University, INSERM UMR 1163, Instititut Imagine, Hopital Necker Enfants Malades, Paris, France)
資料名:
Clinical Genetics
(Clinical Genetics)
巻:
96
号:
4
ページ:
309-316
発行年:
2019年
JST資料番号:
E0526B
ISSN:
0009-9163
資料種別:
逐次刊行物 (A)
記事区分:
文献レビュー
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)