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Claudio Catalli

Claudio Catalli

IKERBASQUE. Basque Foundation for Science - / Spain
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4963383
IKERBASQUE. Basque Foundation for Science
person_outline Claudio Catalli's MOST POPULAR ARTICLES
1-) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 European Journal of Human Genetics 20 (12), 1203-1208, 2012
2-) Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Scientific reports 11 (1), 1526, 2021
3-) Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy European heart journal 42 (32), 3063-3073, 2021
4-) The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients Journal of medical genetics 45 (10), 639-646, 2008
5-) Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) The Journal of Molecular Diagnostics 12 (5), 601-606, 2010