Publications by authors named "Giuseppa Ruggeri"

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Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.
Francesco Cali, Mariagiovanna Cantone, Filomena Irene Ilaria Cosentino, Giuseppe Lanza, Giuseppa Ruggeri

J Parkinsons Dis· May 2020

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An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.
Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Valeria Chiavetta, Giuseppa Ruggeri

Eur J Dermatol· February 2018

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Francesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione, Angelo Selicorni

Eur J Med Genet· February 2017

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A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.
Valeria Chiavetta, Corrado Romano, Francesco Calì, Giuseppa Ruggeri, Maddalena Siragusa

G Ital Dermatol Venereol· October 2016

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Carrier screening for spinal muscular atrophy in Italian population.
Francesco Calì, Giuseppa Ruggeri, Valeria Chiavetta, Carmela Scuderi, Sebastiano Bianca

J Genet· April 2014

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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Francesco Cali, Alda Ragalmuto, Valeria Chiavetta, Giuseppe Calabrese, Marco Fichera, Giuseppa Ruggeri

Exp Mol Med· December 2010

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Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Francesco Cali, Giuseppa Ruggeri, Mirella Vinci, Concetta Meli, Carla Carducci

Exp Mol Med· February 2010

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