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1دورية أكاديمية
المؤلفون: Jaira Ferreira de Vasconcellos, Malak Abedalthagafi, Silvia Calo, Rana Dajani, Zodwa Dlamini, Bertha Hidalgo, Carine Le Goff, Aparna Vasanthakumar
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: genetics, genomics, genome-wide association studies, genetic diversity, cancer, development, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1038317/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Pauline Arnaud, Zakaria Mougin, Catherine Boileau, Carine Le Goff
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: ADAMTS, fibrillin-1, Marfan syndrome, acromelic dysplasias, extracellular matrix, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.734718/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المصدر: Biomolecules, Vol 12, Iss 1, p 12 (2021)
مصطلحات موضوعية: ADAMTS, aorta, aneurysms, human, mouse model, Microbiology, QR1-502
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Carine Le Goff, Philippe Ganot, Didier Zoccola, Natacha Caminiti-Segonds, Denis Allemand, Sylvie Tambutté
المصدر: PLoS ONE, Vol 11, Iss 8, p e0160368 (2016)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4981384?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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5دورية أكاديمية
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6
المؤلفون: Michelle Lim, Andrew Lai, Jonathan Schweber, Nikita Garg, Julie Fleischer, Julie De Backer, Laura Muiño Mosquera, Anji Yetman, Anthony David Caffarelli, Guillaume Jondeau, Arturo Evangelista-Masip, Shaine Morris, Maral Ouzounian, Carine Le Goff, Catherine Boileau, Reed E. Pyeritz, Dianna M. Milewicz, Alan C. Braverman
المصدر: Journal of the American College of Cardiology. 81:2020
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88d4beffdcc17c78cf8eba0c4137fc24Test
https://doi.org/10.1016/s0735-1097Test(23)02464-6 -
7
المؤلفون: Olivier Milleron, Marie Paule Jacob, Benoît Ho-Tin-Noé, Marjolijn Renard, Nadine Hanna, Guillaume Jondeau, Laurent Gouya, Marie Sylvie Gross, Sebastien Dupont, Sandy Elbitar, Sébastien Gaertner, Marianne Abifadel, Jeremie Jonquet, Ketty Kessler, Bertrand Isidor, Catherine Boileau, Yves Alembik, Kiyotoshi Sekiguchi, Dianna M. Milewicz, Laurent Tosolini, Mathilde Varret, Mélodie Aubart, Yara Abou Khalil, Youmna Ghaleb, Dongchuan Guo, Jean-Baptiste Michel, Maud Langeois, Louise Benarroch, Ko Tsutsui, Vincenzo Dattilo, Pauline Arnaud, Julie De Backer, Carine Le Goff, Lynn Y. Sakai, Petra El Khoury
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
GENETICS IN MEDICINEمصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, diagnosis, Fibrillin-1, FIBRONECTIN, thoracic aortic aneurysm, THSD4, 030105 genetics & heredity, Biology, Thoracic aortic aneurysm, DISSECTIONS, DISEASE, Article, Pathogenesis, Mice, 03 medical and health sciences, ADAMTSL6, medicine.artery, Medicine and Health Sciences, medicine, Animals, Humans, Thoracic aorta, Genetics(clinical), Exome, FBN1, Genetics (clinical), Exome sequencing, Genetics, Aortic Aneurysm, Thoracic, MUTATIONS, ADAMTS, MOUSE MODEL, FIBRILLIN-1, medicine.disease, GENE, MARFAN-SYNDROME, TGFBR2, ADAM Proteins, Aortic Dissection, 030104 developmental biology, Haploinsufficiency, Fibrillin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04cc9ec2bf0fbf625acf60866281fa2Test
https://doi.org/10.1038/s41436-020-00947-4Test -
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المؤلفون: Laure Delhon, Zakaria Mougin, Jérémie Jonquet, Angélique Bibimbou, Johanne Dubail, Cynthia Bou-Chaaya, Nicolas Goudin, Wilfried Le Goff, Catherine Boileau, Valérie Cormier-Daire, Carine Le Goff
المصدر: Human molecular genetics. 31(22)
مصطلحات موضوعية: Mice, Bone Diseases, Developmental, Osteogenesis, Fibrillin-1, Mutation, Genetics, Limb Deformities, Congenital, Animals, Humans, General Medicine, Molecular Biology, Genetics (clinical), Marfan Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52569c97bc9405824c13eb630552928bTest
https://pubmed.ncbi.nlm.nih.gov/35660865Test -
9
المؤلفون: Frédéric Charlotte, Youssef Arsafi, Philippe Cluzel, Eric Frisdal, Zahir Amoura, Wilfried Le Goff, Jean Donadieu, Fleur Cohen-Aubart, Philippe Lesnik, Julien Haroche, Carine Le Goff, Lucie Poupel, Flora Saint-Charles, Maryse Guerin, Jean-François Emile
المصدر: Arteriosclerosis, Thrombosis, and Vascular Biology. 38:1913-1925
مصطلحات موضوعية: 0301 basic medicine, Aorta, medicine.medical_specialty, Cholesterol, business.industry, Lipid metabolism, 030204 cardiovascular system & hematology, medicine.disease, 03 medical and health sciences, chemistry.chemical_compound, Histiocytosis, 030104 developmental biology, 0302 clinical medicine, Endocrinology, chemistry, medicine.artery, Internal medicine, Erdheim–Chester disease, medicine, Cardiology and Cardiovascular Medicine, business, Hypoalphalipoproteinemia, Infiltration (medical), Histiocyte
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5ea7fc2b1da82d953c3ca57476e6ba1fTest
https://doi.org/10.1161/atvbaha.118.310803Test -
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المؤلفون: Carine Le Goff, Catherine Boileau, Olivier Milleron, Nadine Hanna, Antoine Da Costa, Christine Francannet, Guillaume Jondeau, Laurent Gouya, Hélène Morel, Pauline Arnaud
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Proband, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Fibrillin-1, 030105 genetics & heredity, Biology, medicine.disease_cause, Fibrillins, Asymptomatic, Article, Marfan Syndrome, 03 medical and health sciences, Exon, Gene duplication, medicine, Humans, Gene, Genetics (clinical), Genetics, Mutation, Mosaicism, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Human genetics, 030104 developmental biology, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::513229868253373beb3233218c05f16dTest
https://pubmed.ncbi.nlm.nih.gov/33495528Test