ojrd.com/article
Bottom,Top,Right1
  • Log on
  •   BioMed Central
  • Journals
  • Gateways
Orphanet Journal of Rare Diseases
official impact factor 5.07
Search for
Advanced search
  • Home
  • Articles
  • Authors
  • Reviewers
  • About this journal
  • My Orphanet Journal of Rare Diseases

Submit a manuscript Register Sign up for article alerts Contact us Follow
BioMed Central
Support

Explore journal

  •  Editorial Board
  •  Instructions for authors
  •  FAQ
Advertisement

Articles

  • All articles
  • Most popular RSS
  • Archive
  • Supplements
  • Article collections

Orphanet Journal of Rare Diseases publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 7 Supplement 2

6th European Conference on Rare Diseases and Orphan Products

Meeting abstracts

6th European Conference on Rare Diseases and Orphan Products

Brussels, Belgium

23-25 May 2012

Edited by Kasia Peala and Alice Elliott

This publication (or activity) has been funded with support from the European Union's Health Programme. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein.

Additional Information | Conference website

Meeting abstract   Open Access

State of the art of rare disease activities in Europe: a EUCERD perspective

Ségolène Aymé Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A1 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

State of the art of rare disease activities around the world: overview of the non-European landscape

Durhane Wong-Rieger Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A2 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

National plans: case study Belgium

Ri De Ridder Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A3 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

The second French plan for rare diseases 2011-2014

Alain Garcia, Christel Nourissier Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A4 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Scope of centres of expertise for rare diseases in European countries where they exist

Charlotte Rodwell, Ségolène Aymé, Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A5 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

European Reference Networks: developing a EUCERD opinion

Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A6 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Can the cross-borders directive improve the quality of genetic testing in the future?

Jean-Jacques Cassiman Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A7 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Sunil Rodger, Birgit F Steffensen, Hanns Lochmüller Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A8 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases

Véronique Héon-Klin, Alexandra Halbach, Miriam Schlangen, Birgit Schnieders Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A9 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

Peter N Robinson Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A10 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Speeding up research with the Semantic Web

Marco Roos, Erik A Schultes, Barend Mons Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A11 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Professional clinical guidelines for rare diseases: methodology

Odile Kremp, Patrice Dosquet, Ana Rath Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A12 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

The involvement of patients in developing clinical guidelines

Kay Parkinson Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A13 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

How reference networks develop, implement, and monitor guidelines

Jan Kirschner, Sunil Rodger, Julia Vry, Kathrin Gramsch, Hanns Lochmüller, Kate Bushby Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A14 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Training medical students on rare disorders

Paula C Byrne Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A15 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

The Italian project to increase health professionals’ training and awareness on rare diseases

Simona Bellagambi Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A16 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Ilona Autti-Rämö Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A17 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Spina Bifida and primary prevention

Pierre Mertens Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A18 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Finding new medicines to fight CF: multiple steps of a success story

Margarida D Amaral Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A19 (22 November 2012)

Full text | PDF

Meeting abstract   Open Access

Exon skipping for DMD

Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen, Judith CT van Deutekom Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A20 (22 November 2012)

Full text | PDF

View more

  • Terms and Conditions
  • Privacy statement
  • Press
  • Information for advertisers
  • Jobs at BMC
  • Support
  • Contact us

© 2013 BioMed Central Ltd unless otherwise stated. Part of Springer Science+Business Media.