Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al. | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | 2020 |
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Professor Volker Straub Emerita Professor Katherine Bushby Dr Monica Ensini Professor Annemieke Aartsma-Rus
| Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy | 2016 |
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Dr Stephen Lynn Dr Monica Ensini Dr Mojgan Reza Professor Hanns Lochmuller
| The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases | 2015 |
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Rachel Thompson Dr Louise Johnston Dr Monica Ensini Emma Heslop Emerita Professor Katherine Bushby et al. | RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research | 2014 |
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