基本信息
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职业迁徙
个人简介
Principal Investigator on NIHR funded trio whole exome sequencing project: The Investigation of Paediatric Mitochondrial Disease without Muscle.
Newcastle based genomics scientist.
Part of a team passionate about getting a genetic diagnosis for our patients.
研究兴趣
论文共 163 篇作者统计合作学者相似作者
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Sandrina P Correia,Marco F Moedas, Lucie S Taylor,Karin Naess,Albert Z Lim,Robert McFarland, Zuzanna Kazior, Anastasia Rumyantseva,Rolf Wibom,Martin Engvall,Helene Bruhn,Nicole Lesko,
JCI insightno. 20 (2024)
Nature Metabolismno. 6 (2024): 1128-1142
Faye Cooles,Gemma Vidal-Pedrola,Najib Naamane,Arthur Pratt,Ben Barron-Millar, Amy Anderson,Catharien Hilkens,John Casement, Vincent Bondet, Darragh Duffy, Fan Zhang,Ruchi Shukla,
QJM monthly journal of the Association of Physicians (2024)
Brain a journal of neurology (2024)
Methods in Molecular Biology (2023): 397-425
Eleni Mavraki,Robyn Labrum,Kate Sergeant,Charlotte L. Alston,Cathy Woodward,Conrad Smith,Charlotte V. Y. Knowles,Yogen Patel, Philip Hodsdon, Jack P. Baines,Emma L. Blakely,James Polke,
European journal of human genetics EJHGno. 2 (2022): 148-163
GENETICS IN MEDICINEno. 4 (2022)
R. M. Boggan, Y. Ng,I. Franklin,C. Alston,E. Blakely, B. Buchner,E. Bugiardini,K. Colclough,C. Feeney, M. Hanna, A. Hattersley, T. Klopstock,
medRxiv (2022)
LIFE SCIENCE ALLIANCEno. 12 (2022): e202101284-e202101284
Genome Medicineno. 1 (2022)
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