المؤلفون: Claire Goudet, Cécile Ged, Audrey Petit, Chloe Desage, Perrine Mahe, Aicha Salhi, Ines Harzallah, Jean-Marc Blouin, Patrick Mercie, Caroline Schmitt, Antoine Poli, Laurent Gouya, Vincent Barlogis, Emmanuel Richard

المصدر: Life, Vol 14, Iss 1, p 130 (2024)

مصطلحات موضوعية: erythropoietic porphyria, congenital erythropoietic porphyria, UROS deficiency, Günther’s disease, hemolytic anemia, hydrops fetalis, Science

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2075-1729/14/1/130Test; https://doaj.org/toc/2075-1729Test

الوصول الحر: https://doaj.org/article/4c90326ad20846f182b5990fcbec2016Test

المؤلفون: Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100722- (2021)

مصطلحات موضوعية: Congenital erythropoietic porphyria, Iron deficiency, ALAS2, Therapeutic phlebotomy, UROS, Heme synthesis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000161Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d94966ec4ecb4b5b89626f93d399b2b2Test

المؤلفون: Grégoire Cullot, Julian Boutin, Jérôme Toutain, Florence Prat, Perrine Pennamen, Caroline Rooryck, Martin Teichmann, Emilie Rousseau, Isabelle Lamrissi-Garcia, Véronique Guyonnet-Duperat, Alice Bibeyran, Magalie Lalanne, Valérie Prouzet-Mauléon, Béatrice Turcq, Cécile Ged, Jean-Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau-Gaudry, Aurélie Bedel

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/3a225f969b444010a97c3369c573fb50Test

المؤلفون: Nour Fayyad, Farah Kobaisi, David Beal, Walid Mahfouf, Cécile Ged, Fanny Morice-Picard, Mohammad Fayyad-Kazan, Hussein Fayyad-Kazan, Bassam Badran, Hamid R. Rezvani, Walid Rachidi

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: Xeroderma Pigmentosum C, nucleotide excision repair, base excision repair, ultra violet (UV) light, oxidative DNA damage, oxidative stress, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2020.561687/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/d511215b8e8e44f4a2848d5e79b0c78dTest

المؤلفون: Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac

المصدر: Haematologica, Vol 103, Iss 11 (2018)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/8657Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/1f0d0cbc356347acb8324b9633747899Test

المؤلفون: Sarah Millot, Constance Delaby, Boualem Moulouel, Thibaud Lefebvre, Nathalie Pilard, Nicolas Ducrot, Cécile Ged, Philippe Lettéron, Lucia de Franceschi, Jean Charles Deybach, Carole Beaumont, Laurent Gouya, Hubert De Verneuil, Saïd Lyoumi, Hervé Puy, Zoubida Karim

المصدر: Haematologica, Vol 102, Iss 2 (2017)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/7966Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/aac1a1886b7c4ca28849a86641e56d33Test

المؤلفون: Hamid Reza Rezvani, Frédéric Mazurier, Fanny Morice-Picard, Thomas Jouary, Muriel Cario-André, Cécile Ged, Hubert de Verneuil, Alain Taïeb

المصدر: Dermatologica Sinica, Vol 28, Iss 3, Pp 93-101 (2010)

مصطلحات موضوعية: HIF-1 alpha, Photoprotection, Reactive oxygen species, Trichothiodystrophy, Warburg effect, Xeroderma pigmentosum, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1027811710600213Test; https://doaj.org/toc/1027-8117Test

الوصول الحر: https://doaj.org/article/eeadbef10f9046348190b25cc0ff6250Test

المؤلفون: Louis, Lebreton, Margaux, Gaschignard, Claire, Guibet, Delphine, Lamireau, Sandrine, Roche, Emmanuel, Richard, Cécile, Ged, Samir, Mesli, Isabelle, Redonnet‐Vernhet

المصدر: JIMD Reports ; volume 64, issue 1, page 35-41 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12346Test

المؤلفون: Mélanie Fourgeaud, Louis Lebreton, Khaldia Belabbas, Mathilde Di Filippo, Vincent Rigalleau, Thierry Couffinhal, Yann Pucheu, Pascal Barat, Cécile Ged, Annie M. Bérard

المساهمون: CHU Bordeaux [Bordeaux], Sorbonne Université (SU), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bordeaux (UB), Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ROSSI, Sabine

المصدر: Journal of clinical lipidology
Journal of clinical lipidology, 2022, 16 (3), pp.298-305. ⟨10.1016/j.jacl.2022.03.002⟩

مصطلحات موضوعية: Adult, Nutrition and Dietetics, Cholestérol LDL, Endocrinology, Diabetes and Metabolism, Cholesterol, LDL, Population pédiatrique, Hyperlipoproteinemia Type II, Hypercholestérolémie familiale, Young Adult, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal Medicine, Humans, Proprotein Convertase 9, Child, Population adulte, Cardiology and Cardiovascular Medicine, maladie monogénique, Retrospective Studies, score DLCN

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f9f3579d5a7ac9b53628220d55a575Test
https://doi.org/10.1016/j.jacl.2022.03.002Test

المؤلفون: Sarah Szepetowski, Claire Berger, Philippe Joly, Sandrine Baron‐Joly, Yoann Huguenin, Aurélie Cantais, Sophie Brun, Cécile Ged, Catherine Badens, Isabelle Thuret, Muriel Giansily‐Blaizot, Serge Pissard, Patricia Aguilar‐Martinez

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: American Journal of Hematology
American Journal of Hematology, 2022, 97 (11), ⟨10.1002/ajh.26687⟩

مصطلحات موضوعية: [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5caf3f4603559664b93bf9f57fb88bdcTest
https://hal-amu.archives-ouvertes.fr/hal-04039751Test