Search Results - "rare diseases"

Moving Towards Accountability for Reasonableness - A Systematic Exploration of the Features of Legitimate Healthcare Coverage Decision-Making Processes Using Rare Diseases and Regenerative Therapies as a Case Study by Monika Wagner, Dima Samaha, Roman Casciano, Matthew Brougham, Payam Abrishami, Charles Petrie, Bernard Avouac, Lorenzo Mantovani, Antonio Sarría-Santamera, Paul Kind, Michael Schlander, Michele Tringali

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications by Markus W. Löffler, Julia Steinhilber, Franz J. Hilke, Sebastian P. Haen, Hans Bösmüller, Ivonne-Aidee, Irina Bonzheim, Antje Stäbler, Ulrike Faust, Ute Grasshoff, Ingmar Königsrainer, Hans-Georg Rammensee, Lothar Kanz, Alfred Königsrainer, Stefan Beckert, Olaf Riess, Christopher Schroeder

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Real-World Safety Data of the Orphan Drug Onasemnogene Abeparvovec (Zolgensma^®) for the SMA Rare Disease: A Pharmacovigilance Study Based on the EMA Adverse Event Reporting System by Rosanna Ruggiero, Nunzia Balzano, Maria Maddalena Nicoletti, Gabriella di Mauro, Federica Fraenza, Maria Rosaria Campitiello, Francesco Rossi, Annalisa Capuano

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XVII CONGRESS OF PEDIATRICIANS OF RUSSIA "RELEVANT ISSUES OF PEDIATRICS" II EURASIAN FORUM ON RARE DISEASES I ALL-RUSSIAN CONFERENCE "EMERGENCY PEDIATRIC SURGERY AND TRAUMATOLOGY" III FORUM OF PEDIATRIC NURSES by article Editorial

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XVII CONGRESS OF PEDIATRICIANS OF RUSSIA "RELEVANT ISSUES OF PEDIATRICS" II EURASIAN FORUM ON RARE DISEASES I ALL-RUSSIAN CONFERENCE "EMERGENCY PEDIATRIC SURGERY AND TRAUMATOLOGY" III FORUM OF PEDIATRIC NURSES by article Editorial

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Utilization and affordability of health insurance coverage for rare disease drugs in a first-tier city in Northeast China from 2018 to 2021: a study based on the health insurance claims database by Yaqun Wang, Na Zhou, Baoxin Li, Zixuan Lv, Shengnan Duan, Xin Li, Ni Yuan

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Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expert Group) by Annemieke Aartsma-Rus, Marc Dooms, Yann Le Cam

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Accompagner les étudiants malades à l'université Une médiation au cœur de l'inclusion des étudiants porteurs d'un cancer ou d'une maladie rare by Sivilotti, Lucas

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Revisión de los aspectos éticos en la investigación biomédica: la experiencia del Comité de Ética del Centro de Investigación sobre el Síndrome del Aceite Tóxico y Enfermedades Raras (CISATER) Review of ethical aspects in biomedical research: The experience of the Ethics Committee of the Center for Toxic Oil Syndrome and Rare Diseases (CISATER) by M.C. Martín-Arribas, M. Posada, B. Terracini, F. Carballo, I. Abaitua

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Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in No... by Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network

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Role of DNA Methyltransferases in the Epigenome by Jeltsch, Albert

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The Impact of Mobile Technology in the Battle against COVID-19 Successes and Failures

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Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges

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Biochemical Biomarkers and Neurodegenerative Diseases

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Rare Respiratory Diseases: A Personal and a Public Health Problem

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Bayesian Design in Clinical Trials

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Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies

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Molecular Basis of Inherited Diseases in Companion Animals

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Ophthalmic Drug Delivery, 2nd Edition

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Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná by Déborah Rossane Santana Costa de-Souza, Franciele Bona Verzeletti, Mara Lúcia Schmitz Ferreira Santos, Josiane Souza

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