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1دورية أكاديمية
المؤلفون: Yael Gazit, Giris Jacob, Rodney Grahame
المصدر: Rambam Maimonides Medical Journal, Vol 7, Iss 4, p e0334 (2016)
مصطلحات موضوعية: Disability, Ehlers-Danlos syndrome, hypermobility syndrome, joint hypermobility, multisystemic, neglect, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Rodney Grahame, Howard P. Levy, Fransiska Malfait, Marco Castori, Brad T. Tinkle, Alan Hakim
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175:148-157
مصطلحات موضوعية: Joint Instability, musculoskeletal diseases, 030203 arthritis & rheumatology, Nosology, Joint hypermobility, medicine.medical_specialty, Genetic syndromes, business.industry, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Beighton score, Ehlers–Danlos syndrome, Practice Guidelines as Topic, Genetics, Physical therapy, Humans, Medicine, Ehlers-Danlos Syndrome, business, 030217 neurology & neurosurgery, Genetics (clinical), Hypermobility (travel)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c087d5fad307c9e9623043aad05768ac
https://doi.org/10.1002/ajmg.c.31539 -
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المؤلفون: Irfan Malik, Fraser C. Henderson, Alan Hakim, Rodney Grahame, Myles Koby
المصدر: Clinical Rheumatology. 39:2481-2482
مصطلحات موضوعية: medicine.medical_specialty, business.industry, MEDLINE, Hypermobility syndrome, Joint instability, General Medicine, medicine.disease, Dermatology, Rheumatology, Ehlers–Danlos syndrome, Internal medicine, medicine, Tissue mechanics, business
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المؤلفون: Piyush Gampawar, Penny J. Norsworthy, Rodney Grahame, Christina Kanonidou, Ruwan A. Weerakkody, Michael Mueller, Holly A. Black, Hanadi Kazkaz, Neeti Ghali, Jana Vandrovcova, Timothy J. Aitman, F. Michael Pope, David Ross, Yousef Ibrahim, Anthony Vandersteen, Jennifer Biggs, Nicholas J.W. Cheshire, David J. P. Ferguson, Abdulshakur Abdullah
المصدر: Weerakkody, R, Vandrovcova, J, Kanonidou, C, Mueller, M, Gampawar, P, Ibrahim, Y, Norsworthy, P J, Biggs, J, Abdullah, A, Ross, D, Black, H, Ferguson, D J P, Cheshire, N, Kazkaz, H, Grahame, R, Ghali, N, Vandersteen, A, Pope, F M & Aitman, T J 2016, ' Targeted next generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome ', Genetics in Medicine . https://doi.org/10.1038/gim.2016.14
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Receptor, Transforming Growth Factor-beta Type I, Protein Serine-Threonine Kinases, 030105 genetics & heredity, Biology, medicine.disease_cause, DNA sequencing, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Testing, Pathology, Molecular, Child, Gene, Genetics (clinical), Aged, Genetic testing, Genetics, Sanger sequencing, Mutation, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Ehlers–Danlos syndrome, Child, Preschool, symbols, Ehlers-Danlos Syndrome, Female, Collagen, Receptors, Transforming Growth Factor beta
وصف الملف: application/pdf
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المؤلفون: Rodney Grahame
المصدر: Rheumatology. 57:2250-2251
مصطلحات موضوعية: Joint Instability, 030203 arthritis & rheumatology, Joint hypermobility, medicine.medical_specialty, business.industry, medicine.disease, Dermatology, Cohort Studies, Natural history, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Ehlers–Danlos syndrome, Surveys and Questionnaires, Humans, Medicine, Ehlers-Danlos Syndrome, Pharmacology (medical), Longitudinal Studies, 030212 general & internal medicine, Child, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4553a8773b4901f74b0e6e26e733e123
https://doi.org/10.1093/rheumatology/key252 -
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المؤلفون: Rodney Grahame, Rubina Aktar, Joan K. Morris, Qasim Aziz, Alan Hakim, Asma Fikree, Charles H. Knowles
المصدر: Neurogastroenterology & Motility. 27:569-579
مصطلحات موضوعية: Adult, Joint Instability, Male, Joint hypermobility, medicine.medical_specialty, Gastrointestinal Diseases, Physiology, education, Comorbidity, Gastro-esophageal reflux disease, Secondary care, Quality of life (healthcare), Fibromyalgia, medicine, Humans, health care economics and organizations, Irritable bowel syndrome, Endocrine and Autonomic Systems, business.industry, Gastroenterology, Case-control study, Middle Aged, medicine.disease, Case-Control Studies, Family medicine, Quality of Life, Physical therapy, Female, business
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المؤلفون: Kelley Corcoran, Rodney Grahame, Amanda C de C Williams, Anne Schmidt
المصدر: British Journal of Pain. 9:157-166
مصطلحات موضوعية: Joint hypermobility, medicine.medical_specialty, Pathology, business.industry, Alternative medicine, Chronic pain, Original Articles, medicine.disease, Anesthesiology and Pain Medicine, Harm, Activity limitation, Physical therapy, Medicine, Pain catastrophizing, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd5cf2b06dc6db0502417e8eed9af54f
https://doi.org/10.1177/2049463714554112 -
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المؤلفون: Rodney, Grahame
المصدر: Rheumatology (Oxford, England). 56(12)
مصطلحات موضوعية: Joint Instability, Surveys and Questionnaires, Humans, Ehlers-Danlos Syndrome, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::91f5bf606a4a6113dfe228e346152844
https://pubmed.ncbi.nlm.nih.gov/30239979 -
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المؤلفون: Brad T. Tinkle, Tomoki Kosho, Clair A. Francomano, Eyal Reinstein, Neeti Ghali, Jessica M Bowen, Johannes Zschocke, Marianne Rohrbach, James H. Black, Roberto Mendoza-Londono, Michael Frank, Marco Castori, Serwet Demirdas, Angela F. Brady, Helen Cohen, Diana Johnson, Nicol C. Voermans, Birgit Juul-Kristensen, F. Michael Pope, Mark E. Lavallee, Sylvie Fournel-Gigleux, John W. Belmont, Nigel Wheeldon, Anne De Paepe, Rodney Grahame, Fransiska Malfait, Cecilia Giunta, Peter H. Byers, Leema Robert, Ines Kapferer-Seebacher, Nigel Burrows, Anthony Vandersteen, Caroline van Mourik, Melanie Pepin, Lara Bloom, Glenda Sobey, Howard P. Levy, Tim Van Damme, Britta Berglund, Lynn Sanders, Marina Colombi, Alan Hakim, Hanadi Kazkaz, Xavier Jeunemaitre, Julie De Backer
المساهمون: University of Zurich, Malfait, Fransiska, Center for Medical Genetics [Ghent], Ghent University Hospital, Johns Hopkins University and Hospital, Department of Pathology, University of Washington [Seattle], Baylor College of Medicine (BCM), Baylor University, Karolinska Institutet [Stockholm], Johns Hopkins University School of Medicine [Baltimore], Sheffield Children's NHS Foundation Trust, Addenbrooke's Hospital, Cambridge University NHS Trust, San Camillo Forlanini Hospital [Rome], Royal National Orthopaedic Hospital (RNOH), University of Brescia, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Center for Medical Genetics, Universiteit Gent = Ghent University (UGENT), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), CIC AP-HP (hegp Ex-Broussais)/inserm, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, University Children’s Hospital Zurich, Whippscross University NHS Hospital, Service de génétique [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Department of Clinical Genetics, University of Southern Denmark (SDU), Department of Operative and Restorative Dentistry, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), University College London Hospitals (UCLH), Shinshu University Hospital, Johns Hopkins University (JHU), The Hospital for sick children [Toronto] (SickKids), Northwick Park Hospital, Medical Genetics Institute, Meir Medical Center, Guy's and St Thomas' Hospital [London], IWK Health Centre, IWK health centre, Radboud University Medical Center [Nijmegen], Children's hospital of Chicago, Universiteit Gent = Ghent University [Belgium] (UGENT), Innsbruck Medical University [Austria] (IMU)
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2017, 175 (1), pp.8-26. ⟨10.1002/ajmg.c.31552⟩
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 8-26
Malfait, F, Francomano, C, Byers, P H, Belmont, J, Berglund, B, Black, J, Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J, De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey, G J, Van Damme, T, Vandersteen, A, van Mourik, C, Voermans, N, Wheeldon, N, Zschocke, J & Tinkle, B 2017, ' The 2017 international classification of the Ehlers-Danlos syndromes ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 8-26 . https://doi.org/10.1002/ajmg.c.31552مصطلحات موضوعية: collagen, 0301 basic medicine, Nosology, Joint hypermobility, Pathology, medicine.medical_specialty, 2716 Genetics (clinical), 610 Medicine & health, Computational biology, Novel gene, Genetic Heterogeneity, genetic basis, 03 medical and health sciences, 0302 clinical medicine, 1311 Genetics, Ehlers–Danlos syndromes, Genetics, medicine, Humans, Connective Tissue Diseases, Genetics (clinical), Genetic heterogeneity, business.industry, classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, 3. Good health, Ehlers danlos, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Ehlers-Danlos syndromes, Ehlers–Danlos syndrome, 10036 Medical Clinic, Clinical diagnosis, Mutation, Practice Guidelines as Topic, Ehlers-Danlos Syndrome, Identification (biology), business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f0b002b28d94b1fa69a6762a4a7db7
https://www.zora.uzh.ch/id/eprint/145775/ -
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المؤلفون: Rodney Grahame, Yael Gazit, Giris Jacob
المصدر: Rambam Maimonides Medical Journal
Rambam Maimonides Medical Journal, Vol 7, Iss 4, p e0334 (2016)مصطلحات موضوعية: Joint hypermobility, musculoskeletal diseases, medicine.medical_specialty, Special Issue on Rheumatology, Bursitis, lcsh:Medicine, Tendonitis, hypermobility syndrome, multisystemic, joint hypermobility, 03 medical and health sciences, 0302 clinical medicine, medicine, 030203 arthritis & rheumatology, Subluxation, lcsh:R5-920, Disability, business.industry, lcsh:R, neglect, Chronic pain, Soft tissue, General Medicine, medicine.disease, Dermatology, Ehlers–Danlos syndrome, Joint pain, Physical therapy, medicine.symptom, business, lcsh:Medicine (General), Ehlers-Danlos syndrome, Evolving Medical Practice, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542a3936beefa458ee41a1f6c77ac7ba
https://pubmed.ncbi.nlm.nih.gov/27824552
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