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List of works by Giuseppa Ruggeri

Carrier screening for spinal muscular atrophy in Italian population

article

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients ⬇️

scientific article published on April 12, 2013

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

scientific article published on 01 January 2019

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

scientific article published on 7 January 2013

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

scientific article published on 9 November 2016

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

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