Search Results - "rare diseases"

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  1. 41
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    Advancing Genomics for Rare Disease Diagnosis and Therapy Development

    Published 2020
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  2. 42
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    Psychosocial Considerations for Children and Adolescents Living with Rare Diseases

    Published 2022
    Subjects: “…rare disease…”
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  3. 43
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    Drug Repurposing for Rare Diseases: A Role for Academia by Sibren van den Berg, Sibren van den Berg, Saco de Visser, Hubert G.M. Leufkens, Carla E.M. Hollak, Carla E.M. Hollak

    Published 2021
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  4. 44
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    Decoding the genetics of rare disease: an interview with Monkol Lek by Monkol Lek

    Published 2022
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  5. 45
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    The Minimum Data Set for Rare Diseases: Systematic Review by Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, Milena Artifon, Amanda Maria Schmidt, Victória Machado Scheibe, Domingos Alves, Têmis Maria Félix

    Published 2023
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  6. 46
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    Wong-Type Dermatomyositis: An Extremely Rare Disease in Childhood by Mario Diplomatico, Orsola Ametrano, Maria Elena Errico, Angela Mauro, Roberto Rega, Rita Sottile

    Published 2019
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  7. 47
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    The economic burden of diagnostic uncertainty on rare disease patients by Lukas Willmen, Lukas Völkel, Tina Willmen, Thilo Deckersbach, Siegfried Geyer, Annette Doris Wagner

    Published 2024
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  8. 48
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    Rare essentials: drugs for rare diseases as essential medicines by Pieter Stolk, Marjolein JC Willemen, Hubert GM Leufkens

    Published 2006
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  9. 49
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    Elastoma: clinical and histopathological aspects of a rare disease by Marina Gagheggi Maciel, Milvia Maria Simões e Silva Enokihara, Maria Bandeira de Melo Paiva Seize, Aline Pantano Marcassi, Christiane Affonso De Donato Piazza, Silmara da Costa Pereira Cestari

    Published 2016
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  10. 50
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    National platform for Rare Diseases Data Registry of Japan by Yoshihiko Furusawa, Izumi Yamaguchi, Naoko Yagishita, Kazumasa Tanzawa, Fumihiko Matsuda, Yoshihisa Yamano, RADDAR‐J Research and Development Group

    Published 2019
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  11. 51
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    Primary cutaneous nodular amyloidosis: A rare disease by Debajyoti Chatterjee, Anshul Radotra, Sendhil M Kumaran

    Published 2017
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  12. 52
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    The economics of moonshots: Value in rare disease drug development by Nathan Yates, Jennifer Hinkel

    Published 2022
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  13. 53
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    Laugier-Hunziker syndrome: a rare disease entity by Mohammad Adil, Tasleem Arif, Syed Suhail, Manu Singh

    Published 2016
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  14. 54
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    Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations by Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam

    Published 2020
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  15. 55
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    Exploring the usability of EUCERD core indicators for rare diseases by Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio

    Published 2015
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  16. 56
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    Syndrom Parry-Romberg: clinical case of a rare disease by Yuri N. Perlamutrov, Svetlana B. Volkova, Kira B. Olhovskaya, Tatiana A. Godzenko

    Published 2022
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  17. 57
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    O mito da doença rara The rare disease myth by Ricardo Cordeiro

    Published 2005
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  18. 58
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    Pachyonychia congenita tarda: A very rare disease entity by Tasleem Arif, Mohammad Adil, Syed Suhail Amin, Konchok Dorjay, Roopal Bansal

    Published 2017
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  19. 59
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    ANALYSIS OF GOVERNMENT PROCUREMENTS OF MEDICINES APPLIED IN RARE DISEASES THERAPY by D. V. Fedyaev, V. K. Fedyaeva, V. V. Omelyanovsky

    Published 2015
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  20. 60
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    Measuring health-related quality of life in patients with rare disease by William R. Lenderking, Milena Anatchkova, Robin Pokrzywinski, Anne Skalicky, Mona L. Martin, Heather Gelhorn

    Published 2021
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