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Anna Guacci
Anna Guacci
University of Salerno
Exome
Genetics
Exome sequencing
Medicine
Mutation
5
Papers
55
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Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes
2018
Journal of Clinical Laboratory Analysis
Anna Guacci
Angela Cordella
Teresa Rocco
Giorgio Giurato
Giovanni Nassa
Francesca Rizzo
Chiara Carlomagno
Stefano Pepe
Roberta Tarallo
Alessandro Weisz
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Citations (3)
Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report
2016
Neurological Sciences
Giovanna Marchese
Francesca Rizzo
Anna Guacci
Alessandro Weisz
Giangennaro Coppola
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Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations
2016
Seizure-european Journal of Epilepsy
Anna Guacci
Massimiliano Chetta
Francesca Rizzo
Giovanna Marchese
Maria Rosaria De Filippo
Giorgio Giurato
Giovanni Nassa
Maria Ravo
Roberta Tarallo
Teresa Rocco
Francesca Felicia Operto
Alessandro Weisz
Giangennaro Coppola
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Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.
2016
Molecular and Cellular Neuroscience
Francesca Rizzo
Paolo Ambrosino
Anna Guacci
Massimiliano Chetta
Giovanna Marchese
Teresa Rocco
Maria Virginia Soldovieri
Laura Manocchio
Ilaria Mosca
Gianluca Casara
Marilena Vecchi
Maurizio Taglialatela
Giangennaro Coppola
Alessandro Weisz
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Citations (43)
Infantile spasms in early-onset Niemann–Pick disease with a novel compound heterozygous mutations in SMPD1 gene
2016
New Horizons in Translational Medicine
Massimiliano Chetta
Anna Guacci
Francesca Rizzo
Giovanna Marchese
Francesca Felicia Operto
Alessandro Weisz
Giangennaro Coppola
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Citations (2)
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