Ségolène Aymé

发表

Correction: Dispelling myths about rare disease registry system development

Christophe Béroud, Adam Hunter, Matthew I. Bellgard, 2014, Source Code for Biology and Medicine.

CEMARA an information system for rare diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2010, MedInfo.

Dispelling myths about rare disease registry system development

Christophe Béroud, Adam Hunter, Matthew I. Bellgard, 2013, Source Code for Biology and Medicine.

The EURO-WABB project

Richard O. Sinnott, Amy Farmer, S. McCafferty, 2012 .

Mapping Orphanet Terminology to UMLS

Maja Milicic Brandt, Ana Rath, Andrew Devereau, 2011, AIME.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Correction to Dispelling myths about rare disease registry system development [Source Code Biol Med, 8, (2013), 21] 10.1186/1751-0473-8-21, 24131574

Adam Hunter, Christophe Béroud, Matthew I. Bellgard, 2014 .

CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2008, MIE.

Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding

Ana Rath, Ségolène Aymé, Bertrand Bellet, 2015, Orphanet Journal of Rare Diseases.

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Bjarne Udd, Ségolène Aymé, Ada Hamosh, 2018, Neuromuscular Disorders.

Congenital Malformations and Maternal Occupational Exposure to Glycol Ethers

Fabrizio Bianchi, Ségolène Aymé, Elisa Calzolari, 1997 .

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

Ségolène Aymé, S. Aymé, 2012, Orphanet Journal of Rare Diseases.

Rare diseases and now rare data?

Simon Woods, Bartha Maria Knoppers, Ségolène Aymé, 2013, Nature Reviews Genetics.

Rare disease policies to improve care for patients in Europe.

Ségolène Aymé, Charlotte Rodwell, C. Rodwell, 2015, Biochimica et biophysica acta.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Richard Sinnott, Véronique Paquis-Flucklinger, Kay Parkinson, 2013, BMC Pediatrics.

Empowerment of patients: lessons from the rare diseases community

Ségolène Aymé, S. Groft, S. Aymé, 2008, The Lancet.

Networking for rare diseases: a necessity for Europe

Ségolène Aymé, S. Aymé, J. Schmidtke, 2007, Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz.

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)

Robert J. G. Chalmers, Ségolène Aymé, P. Demoly, 2017, Orphanet Journal of Rare Diseases.

[Orphanet, an information site on rare diseases].

Ségolène Aymé, S. Aymé, 2003, Soins.

WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art

Ana Rath, Ségolène Aymé, Bertrand Bellet, 2010, Orphanet Journal of Rare Diseases.

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

Jörg Schmidtke, Béatrice Godard, Ségolène Aymé, 2003, European Journal of Human Genetics.

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

Carlo Tomino, Lieven Annemans, Ségolène Aymé, 2017, Orphanet Journal of Rare Diseases.

The importance of review articles in making the voice of rare diseases heard: OJRD’s 10th anniversary

Ségolène Aymé, 2016, Orphanet Journal of Rare Diseases.

Ontological phenotype standards for neurogenetics

Sebastian Köhler, Ana Rath, Ségolène Aymé, 2012, Human mutation.

Orphanet Journal of Rare Diseases: Launch Editorial

Dian Donnai, Ségolène Aymé, Bruno Dallapiccola, 2006, Orphanet Journal of Rare Diseases.