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María José Aparisi

MJ

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Publications

8

Citations

305

H-Index

8

Active since

2010

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Universitari i Politècnic La Fe

Instituto de Investigación Sanitaria La Fe

Institut de Génétique Moléculaire de Montpellier

Instituto de Investigación de Enfermedades Raras

María José Aparisi is an author at Centre for Biomedical Network Research on Rare Diseases specializing in molecular genetics, cell biology, and gene expression.

ORCID

Top concepts

Publications per year

2010–2014

8

Publications

8

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María José Aparisi, Elena Aller, Carla Fuster‐García et al. · Orphanet Journal of Rare Diseases · 2014 · 83 citations · Full text

Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome

Teresa Jaijo, Elena Aller, Gema García‐García et al. · Investigative Ophthalmology & Visual Science · 2010 · 63 citations

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

Gema García‐García, María José Aparisi, Teresa Jaijo et al. · Orphanet Journal of Rare Diseases · 2011 · 58 citations · Full text

Identification of Large Rearrangements of the<i>PCDH15</i>Gene by Combined MLPA and a CGH: Large Duplications Are Responsible for Usher Syndrome

Elena Aller, Teresa Jaijo, Gema García‐García et al. · Investigative Ophthalmology & Visual Science · 2010 · 33 citations

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

María José Aparisi, Gema García‐García, Elena Aller et al. · PLoS ONE · 2013 · 23 citations · Full text

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