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Zoekresultaten - 3 results

National registries of rare diseases in Europe: an overview of the current situation and experiences.

Publication Type: Peer reviewed scientific article Authors: Domenica Taruscio; Luciano Vittozzi; Remy Choquet; Ketil Heimdal; Georgi Iskrov; Yllka Kodra; Paul Landais; Manuel Posada; Rumen Stefanov; ...

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Lynn,S.; Heslop,E.; Gainotti,S.; Taruscio,D.; Kirschner,J.; Verschuuren,J.; Bushby,K.; Beroud,C.; Lochmuller,H. Source: Hum.Mutat., Volume 34, Issue 11, Number 1457, p.1449- 1457 (2013) Keywords: Absence an ...

EQUAL-qual: a European program for external quality assessment of genomic DNA extraction and PCR amplification59

Publication Type: Peer reviewed scientific article Authors: Orlando,C.; Verderio,P.; Maatman,R.; Danneberg,J.; Ramsden,S.; Neumaier,M.; Taruscio,D.; Falbo,V.; Jansen,R.; Casini-Raggi,C.; ...

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