Using rare diseases as models for biobehavioral research: allergic bronchopulmonary aspergillosis 16/11/2018 Artículos
Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011 16/11/2018 Artículos
Validation of diagnosis of aplastic anaemia in La Rioja (Spain) by International Classification of Diseases codes for case ascertainment for the Spanish National Rare Diseases Registry 16/11/2018 Artículos
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation 16/11/2018 Artículos
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity 16/11/2018 Artículos
Towards the automated generation of expert profiles for rare diseases through bibliometric analysis 16/11/2018 Artículos
Treatment of chronic immune-mediated neuropathies: impact of the rare diseases centers network in Italy 16/11/2018 Artículos
The risks of therapeutic misconception and individual patient (n=1) “trials” in rare diseases such as Duchenne dystrophy 16/11/2018 Artículos
