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List of works by María José Aparisi

El nuevo reto en oncología: la secuenciación NGS y su aplicación a la medicina de precisión

scientific article published on 24 June 2016

Functional analysis of splicing mutations in MYO7A and USH2A genes.

scientific article published in March 2011

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

scientific article published on 10 June 2010

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

scientific article

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

scientific article published on 17 October 2011

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

scientific article published in PLoS ONE

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

scientific article

Novel mutations in the USH1C gene in Usher syndrome patients.

scientific article

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells

scientific article

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

scientific article

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

scientific article published on 29 December 2012

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