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Browsing publications by Dr Jennifer Duff.

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Professor Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al.		Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy2024
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 involvement2024
Dr Ana Topf
Dr Jennifer Duff
Dr Richard Charlton
Professor Volker Straub
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure2023