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List of works by Lauren Phillips

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

scientific article

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

scientific article published on 15 March 2017

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

scientific article published on 22 March 2018

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

scientific article published on 19 June 2018

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

scientific article published on 17 November 2017

Limb girdle muscular dystrophy due to mutations in POMT2.

scientific article published on 24 November 2017

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide

scientific article published on 10 July 2017

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