Search Results - "rare diseases"

Research of the range of medication for pulmonary hypertension pharmacotherapy in adults in the pharmaceutical market of Ukraine by A. V. Kabachna, I. S. Datsenko, V. S. Hulpa

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Features of intellectual property protection mechanisms on the example of orphan drugs circulation by D. S. Yurochkin, К. V. Nasonova, Z. М. Golant, I. А. Narkevich, V. P. Trukhin

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Few-Shot Classification with Multiscale Feature Fusion for Clinical Skin Disease Diagnosis by Chen T, Liu Q, Yang J

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Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report by Dedong Zhang, Siying Liu, Bixin Xi, Yongbing Zhu, Yu Chen, Jiasi Zhang, Aiguo Liu

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Primary Immunodeficiencies and Oncological Risk: The Experience of the Children's Hospital of Brescia by Marianna Maffeis, Lucia Dora Notarangelo, Richard Fabian Schumacher, Elena Soncini, Annarosa Soresina, Arnalda Lanfranchi, Fulvio Porta

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Public Views About Involvement in Decision-Making on Health Data Sharing, Access, Use and Reuse: The Importance of Trust in Science and Other Institutions by Ngozi Nwebonyi, Ngozi Nwebonyi, Susana Silva, Susana Silva, Cláudia de Freitas, Cláudia de Freitas, Cláudia de Freitas, Cláudia de Freitas

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Capacity building in clinical and molecular characterization of rare neurodegenerative diseases through the development of a local register and improved use of bioinformatics data... by Anna-Gaelle, Jacqueline Véronique-Baudin, Yannis Duffourd, Jocelyn Inamo, Cyril Goizet, Rémi Bellance, Juliette Smith-Ravin

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Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system by Sara M. Andrews, Katherine Ackerman Porter, Donald B. Bailey, Holly L. Peay

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Price and reimbursement of advanced therapeutic medicinal products in Europe: are assessment and appraisal diverging from expert recommendations? by Virginia Ronco, Myriam Dilecce, Elena Lanati, Pier Luigi Canonico, Claudio Jommi

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Systemic lupus of pediatric onset in Afro-Caribbean children: a cohort study in the French West Indies and French Guiana by Arthur Felix, Frederique Delion, Benoit Suzon, Elise Martin, Anais Ogrizek, M'hamed Mohamed Sahnoun, Claudia Hospice, Aurelie Armougon, Emma Cuadro, Narcisse Elenga, Moustapha Dramé, Brigitte Bader-Meunier, Christophe Deligny, Yves Hatchuel

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In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Scr... by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez

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How can we improve patients' access to new drugs under uncertainties? : South Korea's experience with risk sharing arrangements by Boram Lee, Eun-Young Bae, SeungJin Bae, Hyun-Jin Choi, Kyung-Bok Son, Young-Sil Lee, Suhyun Jang, Tae-Jin Lee

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Sarcoma and the 100,000 Genomes Project: our experience and changes to practice by Sophie C Prendergast, Anna‐Christina Strobl, William Cross, Nischalan Pillay, Sandra J Strauss, Hongtao Ye, Daniel Lindsay, Roberto Tirabosco, Jane Chalker, Shazia S Mahamdallie, Alona Sosinsky, RNOH Pathology Laboratory and Biobank Team, Genomics England Research Consortium, Adrienne M Flanagan, Fernanda Amary

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Using 5 consecutive years of NICE guidance to describe the characteristics and influencing factors on the economic evaluation of orphan oncology drugs by Duan Shengnan, Lv Zixuan, Zhou Na, Zhu Weikai, Yi Yuanyuan, Liu Jiasu, Yuan Ni

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Case Report: Pediatric myeloid/lymphoid neoplasm with eosinophilia and PDGFRA rearrangement: The first case presenting as B-lymphoblastic lymphoma by Reem Akiely, Farah Almasri, Nidal Almasri, Amal Abu-Ghosh

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Evaluation of a Case Management to Support Families With Children Diagnosed With Spinal Muscular Atrophy-Protocol of a Controlled Mixed-Methods Study by Jana Willems, Erik Farin-Glattacker, Thorsten Langer

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Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies by Arthur Felix, Lindsay Osei, Frederique Delion, Benoit Suzon, Aurore Abel, Moustapha Drame, Yves Hatchuel, Christophe Deligny, Fabienne Louis-Sidney

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EU health information progress: the harvest of policy supporting projects and networks by Mariken J. Tijhuis, Linda A. Abboud, Peter W. Achterberg

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Prevalence and barriers to health care transition for adolescent patients with childhood-onset chronic diseases across Japan: A nation-wide cross-sectional survey by Ikuho Sakurai, Mitsue Maru, Takako Miyamae, Masataka Honda

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ITINERÁRIOS TERAPÊUTICOS DE PACIENTES COM DOENÇAS RARAS: REVISÃO INTEGRATIVA by Hidário Lima da Silva, Ismália Cassandra Costa Maia Dias, Adriana Gomes Nogueira Ferreira, Ana Lúcia Fernandes Pereira, Richard Pereira Dutra, Marcelino Santos Neto

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