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Life Science Alliance
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July 14, 2025
The rewiring of cAMP/cGMP and LDH signalling drives cardiac hypertrophy in <i>Pde5a</i> <sup><i>-/-</i></sup> mice
Ana Gabriela de Oliveira do Rêgo, Sonia Maccari, Giuseppe Marano, et al.
Orphanet Journal of Rare Diseases
|
October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
Chiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
Journal of Neuromuscular Diseases
|
February 5, 2019
The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018
Hanns Lochmüller, Anna Ambrosini, Baziel van Engelen, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, 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 research
Rachel Thompson, Louise Johnston, Domenica Taruscio, et al.
Cell Communication and Signaling : CCS
|
August 29, 2019
<sup>1</sup>H-NMR metabolomics reveals the Glabrescione B exacerbation of glycolytic metabolism beside the cell growth inhibitory effect in glioma
Giuseppina D'Alessandro, Deborah Quaglio, Lucia Monaco, 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 researchers
Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
European Journal of Human Genetics : EJHG
|
December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Marina Mora, Corrado Angelini, Fabrizia Bignami, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
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Search research articles
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Showing results (41-50 of 49) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 49 results.
Life Science Alliance
|
July 14, 2025
The rewiring of cAMP/cGMP and LDH signalling drives cardiac hypertrophy in <i>Pde5a</i> <sup><i>-/-</i></sup> mice
Ana Gabriela de Oliveira do Rêgo, Sonia Maccari, Giuseppe Marano, et al.
Orphanet Journal of Rare Diseases
|
October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
Chiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
Journal of Neuromuscular Diseases
|
February 5, 2019
The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018
Hanns Lochmüller, Anna Ambrosini, Baziel van Engelen, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2024
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, 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 research
Rachel Thompson, Louise Johnston, Domenica Taruscio, et al.
Cell Communication and Signaling : CCS
|
August 29, 2019
<sup>1</sup>H-NMR metabolomics reveals the Glabrescione B exacerbation of glycolytic metabolism beside the cell growth inhibitory effect in glioma
Giuseppina D'Alessandro, Deborah Quaglio, Lucia Monaco, 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 researchers
Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
European Journal of Human Genetics : EJHG
|
December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Marina Mora, Corrado Angelini, Fabrizia Bignami, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
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of 5