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Chest|July 25, 2013
Rare diseases research: expanding collaborative translational research opportunitiesStephen C GroftEpidemiologia E Prevenzione|December 16, 2024
[Newborn hearing and eye screenings: recommendations]Domenica Taruscio, Paolo SalernoAnnali Dell'Istituto Superiore Di Sanita|June 16, 2017
Patient-physician alliance: from Hippocrates to Post-Genomic Era. CommentarySimonetta Pulciani, Domenica TaruscioAnnali Dell'Istituto Superiore Di Sanita|December 13, 2023
The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutantsDomenica Taruscio, Alberto MantovaniOrphanet Journal of Rare Diseases|March 4, 2014
A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspectiveStephen C GroftPublic Health Genomics|March 22, 2016
The Quality of Rare Disease Registries: Evaluation and CharacterizationAlessio Coi, Michele Santoro, Ana Villaverde-Hueso, et al.European Journal of Human Genetics : EJHG|February 11, 2016
Improving the informed consent process in international collaborative rare disease research: effective consent for effective researchSabina Gainotti, Cathy Turner, Simon Woods, et al.Advances in Experimental Medicine and Biology|December 8, 2017
Data Quality in Rare Diseases RegistriesYllka Kodra, Manuel Posada de la Paz, Alessio Coi, et al.International Journal of Molecular Sciences|November 11, 2011
The role of microRNAs in the biology of rare diseasesMarco Salvatore, Armando Magrelli, Domenica TaruscioAnnali Dell'Istituto Superiore Di Sanita|March 25, 2011
Rare diseases and orphan drugsDomenica Taruscio, Fiorentino Capozzoli, Claudio FrankPageof 26