The Future of Pharmacogenomics Requires New Discoveries and Innovative Education

por Giardina, Emiliano, Zampatti, Stefania
Publicado 2022

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods

por Stocchi, Laura, Cascella, Raffaella, Zampatti, Stefania, Pirazzoli, Antonella, Novelli, Giuseppe, Giardina, Emiliano
Publicado 2012

C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies

por Zampatti, Stefania, Peconi, Cristina, Campopiano, Rosa, Gambardella, Stefano, Caltagirone, Carlo, Giardina, Emiliano
Publicado 2022

The Genetics and the Genomics of Primary Congenital Glaucoma

por Cascella, Raffaella, Strafella, Claudia, Germani, Chiara, Novelli, Giuseppe, Ricci, Federico, Zampatti, Stefania, Giardina, Emiliano
Publicado 2015

Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01

por Cascella, R, Strafella, C, Ragazzo, M, Zampatti, S, Borgiani, P, Gambardella, S, Pirazzoli, A, Novelli, G, Giardina, E
Publicado 2015

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report

por Graziani, Ludovico, Zampatti, Stefania, Carriero, Miriam Lucia, Minotti, Chiara, Peconi, Cristina, Bengala, Mario, Giardina, Emiliano, Novelli, Giuseppe
Publicado 2023

Application of Precision Medicine in Neurodegenerative Diseases

por Strafella, Claudia, Caputo, Valerio, Galota, Maria R., Zampatti, Stefania, Marella, Gianluca, Mauriello, Silvestro, Cascella, Raffaella, Giardina, Emiliano
Publicado 2018

Performance of the UCLA Scleroderma Clinical Trials Consortium Gastrointestinal Tract 2.0 instrument as a clinical decision aid in the routine clinical care of patients with system...

por Zampatti, Norina, Garaiman, Alexandru, Jordan, Suzana, Dobrota, Rucsandra, Becker, Mike Oliver, Maurer, Britta, Distler, Oliver, Mihai, Carina
Publicado 2021

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy

por Zampatti, Stefania, Peconi, Cristina, Calvino, Giulia, Ferese, Rosangela, Gambardella, Stefano, Cascella, Raffaella, Sebastiani, Jacopo, Falsini, Benedetto, Cusumano, Andrea, Giardina, Emiliano
Publicado 2023

Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations

por Zampatti, Stefania, Ragazzo, Michele, Fabrizio, Carlo, Termine, Andrea, Campoli, Giulia, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Publicado 2021

Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders

por Zampatti, Stefania, Ragazzo, Michele, Peconi, Cristina, Luciano, Serena, Gambardella, Stefano, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Publicado 2021

The Influence of SARS-CoV-2 Pandemic on the Diagnosis of Celiac Disease and Clinical Practice in Pediatric Gastroenterology

por Crocco, Marco, Calvi, Angela, Canzoneri, Francesca, Malerba, Federica, Zampatti, Noemi, Chiaro, Andrea, Arrigo, Serena, Gandullia, Paolo, Proietti, Stefania, Bonassi, Stefano
Publicado 2023

Genetic Counseling and NGS Screening for Recessive LGMD2A Families

por Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
Publicado 2020

Whole genome amplification and real-time PCR in forensic casework

por Giardina, Emiliano, Pietrangeli, Ilenia, Martone, Claudia, Zampatti, Stefania, Marsala, Patrizio, Gabriele, Luciano, Ricci, Omero, Solla, Gianluca, Asili, Paola, Arcudi, Giovanni, Spinella, Aldo, Novelli, Giuseppe
Publicado 2009

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

por Gambardella, Stefano, Ferese, Rosangela, Scala, Simona, Carboni, Stefania, Biagioni, Francesca, Emiliano, Giardina, Zampatti, Stefania, Modugno, Nicola, Fabbiano, Francesco, Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano
Publicado 2018

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

por Ferese, Rosangela, Scala, Simona, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Colonnese, Claudio, Storto, Marianna, Fornai, Francesco, Novelli, Giuseppe, Ruggieri, Stefano, Gambardella, Stefano
Publicado 2018

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease”

por Gambardella, Stefano, Ferese, Rosangela, Scala, Simona, Carboni, Stefania, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Fabbiano, Francesco, Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano
Publicado 2018

WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors

por Fabrizio, Carlo, Termine, Andrea, Caputo, Valerio, Megalizzi, Domenica, Zampatti, Stefania, Falsini, Benedetto, Cusumano, Andrea, Eandi, Chiara Maria, Ricci, Federico, Giardina, Emiliano, Strafella, Claudia, Cascella, Raffaella
Publicado 2022

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

por Ricci, Federico, Staurenghi, Giovanni, Lepre, Tiziana, Missiroli, Filippo, Zampatti, Stefania, Cascella, Raffaella, Borgiani, Paola, Marsella, Luigi Tonino, Eandi, Chiara Maria, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano
Publicado 2013

Correction: Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

por Ricci, Federico, Staurenghi, Giovanni, Lepre, Tiziana, Missiroli, Filippo, Zampatti, Stefania, Cascella, Raffaella, Borgiani, Paola, Marsella, Luigi Tonino, Eandi, Chiara Maria, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano
Publicado 2013