Sylvie Maiella
Paris, France
Last Updated: 09/26/2026
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Found 11 publications
Rare disease nomenclature and coding: challenges, systems, and policies in the global context.
Journal: Archives of medical research
Published: December 04, 2025
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.
Journal: JMIR medical informatics
Published: September 22, 2025
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Journal: Orphanet journal of rare diseases
Published: April 26, 2023
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Journal: Orphanet journal of rare diseases
Published: March 23, 2023
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 20, 2020
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 21, 2019
Characterization of paralogous uncx transcription factor encoding genes in zebrafish.
Journal: Gene: X
Published: July 27, 2018
Characterization of paralogous uncx transcription factor encoding genes in zebrafish.
Journal: Gene
Published: July 27, 2018
Harmonising phenomics information for a better interoperability in the rare disease field.
Journal: European journal of medical genetics
Published: August 01, 2017
Multiparameter single-cell profiling of human CD4+FOXP3+ regulatory T-cell populations in homeostatic conditions and during graft-versus-host disease.
Journal: Blood
Published: July 03, 2013
Orphanet and its consortium: where to find expert-validated information on rare diseases
Journal: Revue neurologique
Published: March 05, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026