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There are 44567 results for: content related to: Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

  1. You have full text access to this Open Access content
    What is known on angiogenesis-related rare diseases? A systematic review of literature

    Journal of Cellular and Molecular Medicine

    Volume 16, Issue 12, December 2012, Pages: 2872–2893, Luis Rodríguez-Caso, Armando Reyes-Palomares, Francisca Sánchez-Jiménez, Ana R. Quesada and Miguel Ángel Medina

    Version of Record online : 13 DEC 2012, DOI: 10.1111/j.1582-4934.2012.01616.x

  2. Genetic Disorders of Collagen, Elastin and Dermal Matrix

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    Rook's Textbook of Dermatology, Ninth Edition

    Nigel Burrows

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0073

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    Ontological phenotype standards for neurogenetics

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1333–1339, Sebastian Köhler, Sandra C. Doelken, Ana Rath, Ségolène Aymé and Peter N. Robinson

    Version of Record online : 2 JUL 2012, DOI: 10.1002/humu.22112

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    Drugs for rare disorders

    British Journal of Clinical Pharmacology

    Volume 83, Issue 8, August 2017, Pages: 1607–1613, Serge Cremers and Jeffrey K. Aronson

    Version of Record online : 27 JUN 2017, DOI: 10.1111/bcp.13331

  5. DNA Repair Disorders with Cutaneous Features

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    Rook's Textbook of Dermatology, Ninth Edition

    Hiva Fassihi

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0079

  6. Disorders Affecting Cutaneous Vasculature

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    Rook's Textbook of Dermatology, Ninth Edition

    Anne Dompmartin, Nicole Revencu, Laurence M. Boon and Miikka Vikkula

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0074

  7. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 967–973, Annet Sollie, Rolf H. Sijmons, Dick Lindhout, Ans T. van der Ploeg, M. Estela Rubio Gozalbo, G. Peter A. Smit, Frans Verheijen, Hans R. Waterham, Sonja van Weely, Frits A. Wijburg, Rudolph Wijburg and Gepke Visser

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22316

  8. The Role of Academic Institutions in the Development of Drugs for Rare and Neglected Diseases

    Clinical Pharmacology & Therapeutics

    Volume 92, Issue 2, August 2012, Pages: 193–202, L D Coles and J C Cloyd

    Version of Record online : 4 JUL 2012, DOI: 10.1038/clpt.2012.83

  9. The role of evidence-based medicine and clinical trials in rare genetic disorders

    Clinical Genetics

    Volume 74, Issue 3, September 2008, Pages: 197–207, MC Kruer and RD Steiner

    Version of Record online : 24 JUL 2008, DOI: 10.1111/j.1399-0004.2008.01041.x

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    Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress

    European Journal of Haematology

    Volume 92, Issue s74, June 2014, Pages: 1–8, Brian O'Mahony, Alastair Kent and Ségolène Aymé

    Version of Record online : 6 MAY 2014, DOI: 10.1111/ejh.12316

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    The need for worldwide policy and action plans for rare diseases

    Acta Paediatrica

    Volume 101, Issue 8, August 2012, Pages: 805–807, John Forman, Domenica Taruscio, Virginia A. Llera, Luis A. Barrera, Timothy R. Coté, Catarina Edfjäll, Désirée Gavhed, Marlene E. Haffner, Yukiko Nishimura, Manuel Posada, Erik Tambuyzer, Stephen C. Groft, Jan-Inge Henter and on behalf of the International Conference for Rare Diseases and Orphan Drugs (ICORD)

    Version of Record online : 11 MAY 2012, DOI: 10.1111/j.1651-2227.2012.02705.x

  12. Cutaneous Histiocytoses

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    Rook's Textbook of Dermatology, Ninth Edition

    Thai Hoa Tran, Elena Pope and Sheila Weitzman

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0137

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    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 931–940, Orion J. Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa A. Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David Adams, William A. Gahl, Kym M. Boycott and Michael Brudno

    Version of Record online : 31 AUG 2015, DOI: 10.1002/humu.22851

  14. Cost of illness for neuromuscular diseases in the United States

    Muscle & Nerve

    Volume 49, Issue 3, March 2014, Pages: 431–438, Jane Larkindale, Wenya Yang, Paul F. Hogan, Carol J. Simon, Yiduo Zhang, Anjali Jain, Elizabeth M. Habeeb-Louks, Annie Kennedy and Valerie A. Cwik

    Version of Record online : 28 JAN 2014, DOI: 10.1002/mus.23942

  15. Phenotyping: Targeting genotype's rich cousin for diagnosis

    Journal of Paediatrics and Child Health

    Volume 51, Issue 4, April 2015, Pages: 381–386, Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Hugh Dawkins, Matthew Bellgard, Marta Girdea, Michael Brudno, Peter Robinson, Andreas Zankl, Tudor Groza, David Gillett and Jack Goldblatt

    Version of Record online : 11 AUG 2014, DOI: 10.1111/jpc.12705

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    How did uncommon disorders become ‘rare diseases’? History of a boundary object

    Sociology of Health & Illness

    Volume 31, Issue 4, May 2009, Pages: 463–477, Caroline Huyard

    Version of Record online : 30 MAR 2009, DOI: 10.1111/j.1467-9566.2008.01143.x

  17. Strategies for Postmarketing Surveillance of Drugs for Rare Diseases

    Clinical Pharmacology & Therapeutics

    Volume 95, Issue 3, March 2014, Pages: 265–268, A S Kesselheim and J J Gagne

    Version of Record online : 5 NOV 2013, DOI: 10.1038/clpt.2013.218

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    Poster Abstracts Not Accepted For Live Presentation

    Pediatric Dermatology

    Volume 34, Issue S1, July 2017, Pages: S100–S212,

    Version of Record online : 16 JUN 2017, DOI: 10.1111/pde.13196

  19. The nature of relationships between orphans and their kinship carers in Botswana

    Child & Family Social Work

    Volume 20, Issue 3, August 2015, Pages: 257–266, Tumani Malinga-Musamba

    Version of Record online : 16 DEC 2013, DOI: 10.1111/cfs.12121

  20. Dermatoses of the Female Genitalia

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    Rook's Textbook of Dermatology, Ninth Edition

    Fiona Lewis

    Published Online : 9 OCT 2016, DOI: 10.1002/9781118441213.rtd0113