Dr Maha Elseed
Dr James Sampson
Dr Tuomo Polvikoski
Matt Henderson
Yolande Parkhurst
et al. | Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy | 2025 |
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Dr Ana Topf
Dr Jennifer Duff
Dr Lizzie Harris
Professor Chiara Marini Bettolo
Professor Volker Straub
et al. | Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement | 2024 |
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Dr Lizzie Harris
Professor Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al. | MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes | 2018 |
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Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al. | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy | 2017 |
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