Browsing ISCIII - Artículos by Funding agency "Unión Europea. Comisión Europea. 7 Programa Marco"

Now showing items 1-14 of 14

2023-01-20

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

journal article

Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; et al.
2017

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

journal article

Koeks, Zaïda; Bladen, Catherine L; Salgado, David; et al.
2014

Current trends in biobanking for rare diseases: a review

journal article

Graham, Caroline E; Molster, Caron; Baynam, Gareth; et al.
2015-03

Economic Burden And Health-Related Quality Of Life Of Patients With Cystic Fibrosis In Bulgaria

journal article

Iskrov, Georgi G; Stefanov, Rumen S; López-Bastida, Julio; et al.
2017

Engineered LINE-1 Retrotransposition in Nondividing Human Neurons

journal article

Macia, Angela; Ayllon, Veronica; Sanchez, Laura; et al.
2016

EWS-FLI1 impairs aryl hydrocarbon receptor activation by blocking tryptophan breakdown via the kynurenine pathway

journal article

Mutz, Cornelia N; Schwentner, Raphaela; Kauer, Maximilian O; et al.
2020-09

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

journal article

Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; et al.
2016-08

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

journal article

Gainotti, Sabina; Turner, Cathy; Woods, Simon; et al.
2013-12

In vivo ectopic implantation model to assess human mesenchymal progenitor cell potential

journal article

Abarrategi, Ander ISCIII; Perez-Tavarez, Raquel ISCIII; Rodriguez-Milla, Miguel A ISCIII; et al.
2017

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

journal article

Sernadela, Pedro; González-Castro, Lorena; Carta, Claudio; et al.
2020

Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.

journal article

Lin, Shu-Hong; Sampson, Joshua N; Grünewald, Thomas G P; et al.
2015-09

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

journal article

Mora, Marina; Angelini, Corrado; Bignami, Fabrizia; et al.
2016-11

The risk of re-identification versus the need to identify individuals in rare disease research

journal article

Hansson, Mats G; Lochmüller, Hanns; Riess, Olaf; et al.
2015-04

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

journal article

Bladen, Catherine L; Salgado, David; Monges, Soledad; et al.