Chiara Pescucci

Chiara Pescucci

Azienda Ospedaliero Universitaria Careggi - Florence / Italy
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4963077
Careggi University Hospital
person_outline Chiara Pescucci's MOST POPULAR ARTICLES
1-) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms Journal of medical genetics 42 (2), 103-107, 2005
2-) Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript Bioinformatics 28 (24), 3232-3239, 2012
3-) Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene Kidney international 65 (5), 1598-1603, 2004
4-) Real‐time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication Human mutation 24 (2), 172-177, 2004
5-) Real‐time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplicationF Ariani, F Mari, C Pescucci, I Longo, M Bruttini, I Meloni, G Hayek, ...Human mutation 24 (2), 172-177, 20041352004