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المؤلفون: Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K Berglund, Matthew A Brown, Angela M Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim-Hanh Le Quan Sang, Edna E Mancilla, Rose Marino, Andrew Strahs, Frederick S Kaplan
المصدر: Future Rare Diseases. 3
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المؤلفون: Robert J. Pignolo, Edward C. Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K. Berglund, Matthew A. Brown, Angela M. Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim‐Hanh Le Quan Sang, Edna E. Mancilla, Rose Marino, Andrew Strahs, Frederick S. Kaplan
مصطلحات موضوعية: Neurology, Neurologi, Endocrinology, Diabetes and Metabolism, fibrodysplasia ossificans progressiva, Endokrinologi och diabetes, therapeutics, Orthopedics and Sports Medicine, clinical trial, Endocrinology and Diabetes
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492896d9f94932c067c4d1dfb7363b11
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678 -
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المؤلفون: null Robert J. Pignolo, null Edward C. Hsiao, null Mona Al Mukaddam, null Geneviève Baujat, null Staffan K. Berglund, null Matthew A. Brown, null Angela M. Cheung, null Carmen De Cunto, null Patricia Delai, null Nobuhiko Haga, null Peter Kannu, null Richard Keen, null Kim‐Hanh Le Quan Sang, null Edna E. Mancilla, null Rose Marino, null Andrew Strahs, null Frederick S. Kaplan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48116c305a70e6443e123fdf0b160e3e
https://doi.org/10.1002/jbmr.4762/v2/response1 -
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المؤلفون: Odette Schwegler, Frederick S. Kaplan, Nicola Ezra, Mona Al Mukaddam, Clive S. Friedman, Amanda Cali, Patricia Delai, Christiaan Scott, Vanda Harries
المصدر: Rheumatology. 60
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Hereditary multiple exostoses, Connective tissue, Heterozygote advantage, Osteochondromatosis, medicine.disease, Dermatology, Tendon, medicine.anatomical_structure, Rheumatology, Fibrodysplasia ossificans progressiva, Biopsy, medicine, Missense mutation, Pharmacology (medical), business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9eb45aaa9f524d8ae76f627117685a03
https://doi.org/10.1093/rheumatology/keab722.060 -
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المؤلفون: Robert J. Diecidue, Edward C. Hsiao, Clive S. Friedman, Keqin Zhang, Elisabeth M.W. Eekhoff, Tae Joon Cho, Mona Al Mukaddam, Richard Keen, Zvi Grunwald, Maja Di Rocco, Coen Netelenbos, Matthew A. Brown, Amanda Cali, F.S. Kaplan, Patricia Delai, Geneviève Baujat, Michael Zasloff, Carmen De Cunto, Robert J. Pignolo, Rolf Morhart, Nobuhiko Haga, Christiaan Scott
المساهمون: Internal medicine, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Movement Sciences - Rehabilitation & Development
المصدر: British Journal of Clinical Pharmacology
British Journal of Clinical Pharmacology, 85(6), 1199-1207. Wiley-Blackwell
British journal of clinical pharmacology, vol 85, iss 6
Hsiao, E C, di Rocco, M, Cali, A, Zasloff, M, Al Mukaddam, M, Pignolo, R J, Grunwald, Z, Netelenbos, C, Keen, R, Baujat, G, Brown, M A, Cho, T-J, de Cunto, C, Delai, P, Haga, N, Morhart, R, Scott, C, Zhang, K, Diecidue, R J, Friedman, C S, Kaplan, F S & Eekhoff, E M W 2019, ' Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP) ', British Journal of Clinical Pharmacology, vol. 85, no. 6, pp. 1199-1207 . https://doi.org/10.1111/bcp.13777مصطلحات موضوعية: Research design, medicine.medical_specialty, rare disease clinical trials, Consensus, Ossification, Orphan diseases, 030226 pharmacology & pharmacy, 03 medical and health sciences, Patient safety, 0302 clinical medicine, Stakeholder Participation, patient safety, Medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, Pharmacology & Pharmacy, Intensive care medicine, Pharmacology, Clinical Trials as Topic, business.industry, Ossification, Heterotopic, Patient Selection, Review‐themed Issue, Myositis ossificans, Pharmacology and Pharmaceutical Sciences, medicine.disease, Fibrodysplasia ossificans progressiva (FOP), Clinical trial, Clinical research, Myositis Ossificans, Research Design, Fibrodysplasia ossificans progressiva, Heterotopic ossification, Heterotopic, Bone Remodeling, business
وصف الملف: application/pdf
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المؤلفون: Zvi Grunwald, Mona Al Mukaddam, Geneviève Baujat, Sammi Kile, Edward C. Hsiao, Nobuhiko Haga, Adam Sherman, Kin Cheung, Mary Anne Fitzpatrick, Richard Keen, Christiaan Scott, Benjamin Levi, Maja Di Rocco, Robert J. Pignolo, Rolf Morhart, Carmen De Cunto, Keqin Zhang, Elisabeth M.W. Eekhoff, Patricia Delai, F.S. Kaplan
المساهمون: Internal medicine, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Movement Sciences, AMS - Tissue Function & Regeneration
المصدر: Bone, 134:115274. Elsevier Inc.
Pignolo, R J, Cheung, K, Kile, S, Fitzpatrick, M A, De Cunto, C, Al Mukaddam, M, Hsiao, E C, Baujat, G, Delai, P, Eekhoff, E M W, Di Rocco, M, Grunwald, Z, Haga, N, Keen, R, Levi, B, Morhart, R, Scott, C, Sherman, A, Zhang, K & Kaplan, F S 2020, ' Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry ', Bone, vol. 134, 115274 . https://doi.org/10.1016/j.bone.2020.115274مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Patient-Reported Outcomes Measurement Information System, Histology, Adolescent, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Acquired immunodeficiency syndrome (AIDS), Quality of life, medicine, Global health, Humans, Registries, Baseline (configuration management), Child, Aged, business.industry, Ossification, Heterotopic, Infant, Middle Aged, medicine.disease, Clinical trial, 030104 developmental biology, Phenotype, Myositis Ossificans, Fibrodysplasia ossificans progressiva, Child, Preschool, Physical therapy, Heterotopic ossification, Self Report, business
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المؤلفون: Patricia Delai, Rishi R. Gupta, Robert J. Pignolo, David M. Rocke, David L. Glaser, Mona Al Mukaddam, Frederick S. Kaplan
المصدر: Bone. 109:120-123
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Population, 030232 urology & nephrology, ACVR1, Nephrolithiasis, Kidney Calculi, Young Adult, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Risk Factors, Surveys and Questionnaires, Internal medicine, Prevalence, medicine, Humans, Young adult, education, Disease burden, education.field_of_study, business.industry, Age Factors, Myositis ossificans, Middle Aged, medicine.disease, 030104 developmental biology, Myositis Ossificans, Fibrodysplasia ossificans progressiva, Female, Kidney stones, business, Natural history study
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المؤلفون: Frederick Kaplan, Eric Bachman, Nicky Williams, Oliver Collins, Robert J. Pignolo, Rolf Morhart, Nobuhiko Haga, Adam Sherman, Xiaobing Qian, Donna R. Grogan, Betsy Bogard, Matthew A. Brown, Richard Keen, Keqin Zhang, Christiaan Scott, Maja Di Rocco, Marelise E. M. W. Eekhoff, Geneviève Baujat, Roger zum Felde, Patricia Delai, Carmen De Cunto, Neal Mantick, Edward C. Hsiao, Sharon Kantanie, Jelena Milosevic, Marin Wallace
المساهمون: Internal medicine, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, AMS - Musculoskeletal Health, AMS - Physical Functioning in Major Disease
المصدر: Mantick, N, Bachman, E, Baujat, G, Brown, M, Collins, O, De Cunto, C, Delai, P, Eekhoff, M, zum Felde, R, Grogan, D R, Haga, N, Hsiao, E, Kantanie, S, Kaplan, F, Keen, R, Milosevic, J, Morhart, R, Pignolo, R, Qian, X, di Rocco, M, Scott, C, Sherman, A, Wallace, M, Williams, N, Zhang, K & Bogard, B 2018, ' The FOP Connection Registry : Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva ', Bone, vol. 109, pp. 285-290 . https://doi.org/10.1016/j.bone.2017.08.032
Bone, 109, 285-290. Elsevier Inc.مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Histology, Adolescent, Physiology, Endocrinology, Diabetes and Metabolism, Population, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Registries, Child, education, Aged, 030203 arthritis & rheumatology, education.field_of_study, business.industry, Ossification, Heterotopic, Patient portal, Infant, Mean age, Patient data, Middle Aged, medicine.disease, Surgery, 030104 developmental biology, Positive response, Myositis Ossificans, Child, Preschool, Fibrodysplasia ossificans progressiva, Disease Progression, Female, Observational study, Medical emergency, business, Clinical progression
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المؤلفون: Patricia Delai, Richard Keen, Carmen De Cunto, Robert J. Pignolo, Rolf Morhart, Maja Di Rocco, Geneviève Baujat, Elisabeth M.W. Eekhoff, Matthew A. Brown, Edward C. Hsiao, Frederick S. Kaplan, Marta Bertamino, Nobuhiko Haga
المصدر: Orphanet Journal of Rare Diseases
Di Rocco, M, Baujat, G, Bertamino, M, Brown, M, De Cunto, C L, Delai, P L R, Eekhoff, E M W, Haga, N, Hsiao, E, Keen, R, Morhart, R, Pignolo, R J & Kaplan, F S 2017, ' International physician survey on management of FOP : A modified Delphi study ', Orphanet Journal of Rare Diseases, vol. 12, no. 1, 110 . https://doi.org/10.1186/s13023-017-0659-4
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Delphi Technique, Modified delphi, Delphi method, lcsh:Medicine, ACVR1, Global Health, 03 medical and health sciences, 0302 clinical medicine, Physicians, medicine, Global health, Humans, Pharmacology (medical), Position Statement, Intensive care medicine, Genetics (clinical), business.industry, Data Collection, lcsh:R, General Medicine, Myositis ossificans, medicine.disease, 030104 developmental biology, Myositis Ossificans, 030220 oncology & carcinogenesis, Physician survey, Fibrodysplasia ossificans progressiva, Heterotopic ossification, business, Activin Receptors, Type I
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المؤلفون: Stephen J. Forman, Meiqi Xu, Frederick S. Kaplan, Patricia Delai, Eileen M. Shore, Michael Zasloff, David L. Glaser, Gabriele Gillessen-Kaesbach, Elisabeth Fastnacht-Urban, William Reardon, J. Michael Connor, Petra Seemann, Syed Adeel Zaidi, Stefan Mundlos, Richard M. Pauli, Liam Carroll, Rolf Morhart, Julie Hoover-Fong, Jay C. Groppe, Bernhard Köster
المصدر: Human Mutation. 30:379-390
مصطلحات موضوعية: Male, Models, Molecular, Heterozygote, medicine.medical_specialty, Pathology, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, ACVR1, Biology, medicine.disease_cause, Bone morphogenetic protein, Article, Internal medicine, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetics (clinical), Mutation, Sequence Homology, Amino Acid, Myositis ossificans, Activin receptor, medicine.disease, Protein Structure, Tertiary, Endocrinology, Myositis Ossificans, Fibrodysplasia ossificans progressiva, Female, Heterotopic ossification, Activin Receptors, Type I
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