Canlyniadau Chwilio - Stefano Duga
- Dangos 1 - 20 canlyniadau o 46
- Ewch i'r Dudalen Nesaf
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Recessively inherited coagulation disorders gan Pier Mannuccio Mannucci, Stefano Duga, Flora Peyvandi
Cyhoeddwyd 2004Revisão -
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The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis gan Giulia Cardamone, Elvezia Maria Paraboschi, Valeria Rimoldi, Stefano Duga, Giulia Soldà, Rosanna Asselta
Cyhoeddwyd 2017Artigo -
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First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family gan Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta
Cyhoeddwyd 2015Artigo -
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A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing gan Giulia Soldà, Michela Robusto, Paola Primignani, Pierangela Castorina, Elena Benzoni, Antonio Cesarani, Umberto Ambrosetti, Rosanna Asselta, Stefano Duga
Cyhoeddwyd 2011Artigo -
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SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population gan Luca Trotta, Ilaria Guella, Giulia Soldà, Francesca Sironi, Silvana Tesei, Margherita Canesi, Gianni Pezzoli, Stefano Goldwurm, Stefano Duga, Rosanna Asselta
Cyhoeddwyd 2011Artigo -
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Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population gan Ilaria Guella, Rosanna Asselta, Diego Ardissino, Pier Angelica Merlini, Flora Peyvandi, Sekar Kathiresan, Pier Mannuccio Mannucci, Marco Tubaro, Stefano Duga
Cyhoeddwyd 2010Artigo -
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The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p gan Letizia Straniero, Valeria Rimoldi, Maura Samarani, Stefano Goldwurm, Alessio Di Fonzo, Rejko Krüger, Michela Deleidi, Massimo Aureli, Giulia Soldà, Stefano Duga, Rosanna Asselta
Cyhoeddwyd 2017Artigo -
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Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients gan Elvezia Maria Paraboschi, Giulia Soldà, Donato Gemmati, Elisa Orioli, G Zeri, Maria Donata Benedetti, Alessandro Salviati, Nadia Barizzone, Maurizio Leone, Stefano Duga, Rosanna Asselta
Cyhoeddwyd 2011Artigo -
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Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer gan Margarita Kirienko, Martina Sollini, Marinella Corbetta, Emanuele Voulaz, Noemi Gozzi, Matteo Interlenghi, Francesca Gallivanone, Isabella Castiglioni, Rosanna Asselta, Stefano Duga, Giulia Soldà, Arturo Chiti
Cyhoeddwyd 2021Artigo -
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LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population gan Roberto Cilia, Chiara Siri, Damiana Rusconi, Roberta Allegra, Andrea Ghiglietti, Giorgio Sacilotto, Michela Zini, Anna Zecchinelli, Rosanna Asselta, Stefano Duga, Anna Maria Paganoni, Gianni Pezzoli, Manuela Seia, Stefano Goldwurm
Cyhoeddwyd 2014Artigo -
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The SPID-GBA study gan Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Valeria Rimoldi, Giada Melistaccio, Giulia Soldà, Massimo Aureli, Matteo Giovanni Della Porta, Ugo Lucca, Alessio Di Fonzo, Anna Zecchinelli, Gianni Pezzoli, Roberto Cilia, Stefano Duga
Cyhoeddwyd 2020Artigo -
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Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction gan Aenne S. Thormaehlen, Christian Schuberth, Hong‐Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiß, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S. Lander, Stacey Gabriel, Daniel J. Rader, Gina M. Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz
Cyhoeddwyd 2015Artigo -
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Role of Lysosomal Gene Variants in Modulating <scp><i>GBA</i></scp>‐Associated Parkinson's Disease Risk gan Letizia Straniero, Valeria Rimoldi, Edoardo Monfrini, Salvatore Bonvegna, Giada Melistaccio, Julie Lake, Giulia Soldà, Massimo Aureli, Shankaracharya, Pamela Keagle, Tatiana Foroud, John E. Landers, Cornelis Blauwendraat, Anna Zecchinelli, Roberto Cilia, Alessio Di Fonzo, Gianni Pezzoli, Stefano Duga, Rosanna Asselta
Cyhoeddwyd 2022Revisão -
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A frequent oligogenic involvement in congenital hypothyroidism gan Tiziana de Filippis, Giulia Gelmini, Elvezia Maria Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Cyhoeddwyd 2017Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Medicine
Genetics
Gene
Internal medicine
Disease
Mutation
Exome sequencing
Exome
Cholesterol
Genotype
Odds ratio
Phenotype
Allele
Environmental health
Population
Single-nucleotide polymorphism
Confidence interval
Coronary artery disease
Endocrinology
Lipoprotein
Missense mutation
Amyotrophic lateral sclerosis
Bioinformatics
Oncology
Parkinson's disease
Virology
Cancer research
Glucocerebrosidase
Immunology