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1دورية أكاديمية
المؤلفون: Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 8 (2022)
مصطلحات موضوعية: Editorials, familial thoracic aortic aneurysm and dissection, genetic screening, whole exome sequencing, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2047-9980
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المؤلفون: Maura L. Boerio, Nicole M. Engelhardt, Sanmati Cuddapah, Jessica I. Gold, Isabella C. Marin, Amélie Pinard, Dongchuan Guo, Siddharth K. Prakash, Dianna M. Milewicz
المصدر: Circulation: Genomic and Precision Medicine. 15
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f61bf35f640cbcba602e260854bfb27
https://doi.org/10.1161/circgen.122.003707 -
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المؤلفون: Maura L, Boerio, Nicole, Engelhardt, Sanmati, Cuddapah, Jessica I, Gold, Isabella C, Marin, Amélie, Pinard, Dongchuan, Guo, Siddharth K, Prakash, Dianna M, Milewicz
المصدر: Circulation. Genomic and precision medicine.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5341c9119c67ebbe4221bfc8209071e0
https://pubmed.ncbi.nlm.nih.gov/36350761 -
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المؤلفون: Dongchuan Guo, Natasha Kharas, Michael J. Bamshad, Ellen M. Hostetler, Stephanie E. Wallace, Stéphanie Guey, Markus Kraemer, Anjail Sharrief, Ellen S. Regalado, Deborah A. Nickerson, Alana C. Cecchi, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Amélie Pinard, Françoise Bergametti, Dianna M. Milewicz, Edward R. Smith, Dominique Hervé
المصدر: Genet Med
مصطلحات موضوعية: Adult, Male, Proband, Heart disease, Developmental Disabilities, Cell Cycle Proteins, Disease, Article, Chromatin remodeling, Angiopathy, Pleiotropy, Intellectual Disability, Exome Sequencing, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, business.industry, DNA Helicases, Nuclear Proteins, food and beverages, Methyltransferases, Middle Aged, medicine.disease, Human genetics, Cerebrovascular Disorders, Child, Preschool, Mutation, Female, Moyamoya Disease, business, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Transcription Factors
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المؤلفون: Carol Nelson-Williams, Nicholas S. Diab, Qiongshi Lu, Danielle F Miyagishima, Phan Q. Duy, Daniel H. Geschwind, Shih Shan Lang Chen, Dean Thumkeo, James R. Knight, Bo Zhang, Shozeb Haider, Adam J. Kundishora, Francesc López-Giráldez, Darren B. Orbach, Boyang Li, Samuel T. Peters, Sheng Chih Jin, Tanyeri Barak, Arnaud Marlier, Charles C. Matouk, Seth L. Alper, Richard P. Lifton, Michael J. Bamshad, Shrikant Mane, Shujuan Zhao, Jack Ocken, Weilai Dong, Hannah Smith, Ashley Dunbar, Amber N. Stratman, Daniel Duran, Kristopher T. Kahle, Shreyas Panchagnula, Christopher Castaldi, Dianna M. Milewicz, Benjamin C. Reeves, Rebecca L. Walker, Michael L. DiLuna, Phillip B. Storm, Isabelle Roszko, Nanthiya Sujijantarat, Yi Hsien Chen, Amélie Pinard, Murat Gunel, Stephanie M. Robert, Deborah A. Nickerson, Hongyu Zhao, Edward R. Smith
المصدر: JAMA Neurol
مصطلحات موضوعية: Proband, Oncology, Adult, Male, medicine.medical_specialty, Candidate gene, Formins, Genome-wide association study, Compound heterozygosity, White People, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, medicine, Humans, Computer Simulation, Exome, 030212 general & internal medicine, Age of Onset, Child, Exome sequencing, Genetic association, Original Investigation, business.industry, Sequence Analysis, RNA, Genetic Variation, Infant, Middle Aged, Actin cytoskeleton, Magnetic Resonance Imaging, Phenotype, Child, Preschool, Cohort, Female, Neurology (clinical), Moyamoya Disease, business, Cell Adhesion Molecules, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d848e55a541155775c7a0e28270abe84
https://europepmc.org/articles/PMC8204259/ -
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المؤلفون: Isabella Marin, Amélie Pinard, Alana C. Cecchi, Dianna M. Milewicz, Dongchuan Guo, Ellen M. Hostetler
المصدر: J Cardiovasc Surg (Torino)
مصطلحات موضوعية: medicine.medical_specialty, Genomic research, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genetic variation, medicine, Clinical genetic, Humans, Genetic Predisposition to Disease, Genetic risk, Clinical care, Intensive care medicine, Genetic testing, Aortic Aneurysm, Thoracic, medicine.diagnostic_test, Acute aortic dissections, business.industry, General Medicine, Tailored treatment, Aortic Dissection, 030228 respiratory system, Acute Disease, cardiovascular system, Surgery, Cardiology and Cardiovascular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c670c037f1d8931f63f1858eceb2c8
https://doi.org/10.23736/s0021-9509.21.11816-6 -
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المؤلفون: Maximillian D.J. Fiander, Michael J. Bamshad, Dongchuan Guo, Anna C.E. Hurst, Deborah A. Nickerson, Sarah C. Novara, Alana C. Cecchi, Andrea L. Rideout, Dianna M. Milewicz, Amélie Pinard, Anthony Vandersteen, Mohamed Azouz, P. Daniel McNeely, Simon Walling, Sandhya Parkash, Stuart M. Fraser
المصدر: Neurology
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Ubiquitin-Protein Ligases, Aortic Diseases, Arterial Occlusive Diseases, Renal artery stenosis, Renal Artery Obstruction, Iliac Artery, Article, 03 medical and health sciences, 0302 clinical medicine, medicine.artery, Occlusion, medicine, Humans, Ring domain, Moyamoya disease, Age of Onset, Exome sequencing, Adenosine Triphosphatases, business.industry, Abdominal aorta, Occlusive, medicine.disease, Femoral Artery, Young age, 030104 developmental biology, Child, Preschool, Mutation, Female, Neurology (clinical), Moyamoya Disease, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f626f519ba2368257f8896d43019c69
https://europepmc.org/articles/PMC8055312/ -
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المؤلفون: Amélie Pinard, Dianna M. Milewicz, Gregory T. Jones
المصدر: Circulation Research. 124:588-606
مصطلحات موضوعية: medicine.medical_specialty, Aorta, education.field_of_study, Physiology, business.industry, Vascular disease, Population, Disease, medicine.disease, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Aortic aneurysm, Internal medicine, medicine.artery, cardiovascular system, medicine, Cardiology, Cardiology and Cardiovascular Medicine, business, education, Cause of death
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::629f21677da92a07f17ad1971d7f62a5
https://doi.org/10.1161/circresaha.118.312436 -
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المؤلفون: Dongchuan Guo, Siddharth K. Prakash, Deborah A. Nickerson, Amélie Pinard, Fadi I Musfee, Elizabeth E. Blue, Ellen M. Hostetler, Dianna M. Milewicz, Michael J. Bamshad
المصدر: Molecular Genetics & Genomic Medicine. 8
مصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, medicine.diagnostic_test, GATA4, business.industry, Disease, 030105 genetics & heredity, medicine.disease, Thoracic aortic aneurysm, 03 medical and health sciences, 030104 developmental biology, Bicuspid aortic valve, Internal medicine, Cohort, cardiovascular system, Genetics, medicine, Cardiology, business, Molecular Biology, Genetics (clinical), Exome sequencing, Genetic testing