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Health Policy (Amsterdam, Netherlands)|September 6, 2012
Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD studyRenata Linertová, Pedro Serrano-Aguilar, Manuel Posada-de-la-Paz, et al.
Journal of General Internal Medicine|July 18, 2014
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease researchRachel Thompson, Louise Johnston, Domenica Taruscio, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|April 7, 2016
Social/economic costs and quality of life in patients with haemophilia in EuropeMarianna Cavazza, Yllka Kodra, Patrizio Armeni, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|April 4, 2016
Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in EuropeMarianna Cavazza, Yllka Kodra, Patrizio Armeni, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|April 11, 2016
Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in EuropeMárta Péntek, László Gulácsi, Valentin Brodszky, et al.
Kidney & Blood Pressure Research|March 21, 2018
Fabry Nephropathy: An Evidence-Based Narrative ReviewMaría Del Pino, Amado Andrés, Ana Ávila Bernabéu, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
Biomed Research International|December 8, 2017
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web LayerPedro Sernadela, Lorena González-Castro, Claudio Carta, et al.
American Journal of Respiratory Cell and Molecular Biology|December 13, 2017
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin DeficiencyNerea Matamala, Beatriz Lara, Gema Gomez-Mariano, et al.
International Journal of Molecular Sciences|August 26, 2022
Differences in Expression of <i>IQSEC2</i> Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental DisorderBeatriz Baladron, Lidia M Mielu, Estrella López-Martín, et al.
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