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List of works by Ana Rath

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

scientific article published on 16 September 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Mondo: Unifying diseases for the world, by the world

Reply to E. Vicente et al

scientific article published on 01 December 2020

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

scientific article

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