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List of works by Lydia Sagath

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

scientific article published on 16 May 2022

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region

scientific article published on 13 November 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

article

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the <i>TTN</i> Segmental Duplication Region

scientific article published on 19 May 2022

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

scientific article published on 20 December 2018

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

scientific article published in PLoS ONE

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

scientific article published on 2 March 2018

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