Hasil Pencarian - Rosanna Asselta

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  1. 1
    Editorial: RNA Splicing and Backsplicing: Disease and Therapy

    Editorial: RNA Splicing and Backsplicing: Disease and Therapy oleh Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga, Eladio Andrés Velasco, Eladio Andrés Velasco, Emanuele Buratti

    Diterbitkan 2020-12-01
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  2. 2
    Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

    Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions oleh Elvezia Maria Paraboschi, Giulia Cardamone, Giulia Soldà, Giulia Soldà, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta

    Diterbitkan 2018-12-01
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  3. 3
    Hereditary Hypofibrinogenemia with Hepatic Storage

    Hereditary Hypofibrinogenemia with Hepatic Storage oleh Rosanna Asselta, Elvezia Maria Paraboschi, Stefano Duga

    Diterbitkan 2020-10-01
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  4. 4
    Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

    Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains oleh Elvezia Maria Paraboschi, Stefano Duga, Rosanna Asselta

    Diterbitkan 2017-12-01
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  5. 5
    First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

    First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features oleh Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Giulia Soldà, Melissa Bellini, Giacomo Biasucci, Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga

    Diterbitkan 2018-10-01
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  6. 6
    New insights on the role of human leukocyte antigen complex in primary biliary cholangitis

    New insights on the role of human leukocyte antigen complex in primary biliary cholangitis oleh Giacomo Mulinacci, Giacomo Mulinacci, Andrea Palermo, Andrea Palermo, Alessio Gerussi, Alessio Gerussi, Rosanna Asselta, Rosanna Asselta, Merrill Eric Gershwin, Pietro Invernizzi, Pietro Invernizzi

    Diterbitkan 2022-08-01
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  7. 7
    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa oleh Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta, Giulia Soldà, Giulia Soldà

    Diterbitkan 2021-02-01
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  8. 8
    Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

    Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency oleh Elvezia Maria Paraboschi, Marzia Menegatti, Flora Peyvandi, Stefano Duga, Rosanna Asselta

    Diterbitkan 2019-02-01
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  9. 9
    The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

    The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis oleh Giulia Cardamone, Elvezia Maria Paraboschi, Valeria Rimoldi, Stefano Duga, Giulia Soldà, Rosanna Asselta

    Diterbitkan 2017-03-01
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  10. 10
    Genetic Association and Altered Gene Expression of <i>CYBB</i> in Multiple Sclerosis Patients

    Genetic Association and Altered Gene Expression of <i>CYBB</i> in Multiple Sclerosis Patients oleh Giulia Cardamone, Elvezia Maria Paraboschi, Giulia Soldà, Stefano Duga, Janna Saarela, Rosanna Asselta

    Diterbitkan 2018-12-01
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  11. 11
    Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

    Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss oleh Chiara Chiereghin, Michela Robusto, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Rosanna Asselta, Giulia Soldà

    Diterbitkan 2022-05-01
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  12. 12
    Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.

    Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript. oleh Valeria Rimoldi, Giulia Soldà, Rosanna Asselta, Silvia Spena, Cristiana Stuani, Emanuele Buratti, Stefano Duga

    Diterbitkan 2013-01-01
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  13. 13
    Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

    Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor... oleh Giorgia Zadra, Rosanna Asselta, Maria Luisa Tenchini, Giancarlo Castaman, Uri Seligsohn, Pier Mannuccio Mannucci, Stefano Duga

    Diterbitkan 2008-05-01
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  14. 14
    Mycobacterium tuberculosis Drives Expansion of Low-Density Neutrophils Equipped With Regulatory Activities

    Mycobacterium tuberculosis Drives Expansion of Low-Density Neutrophils Equipped With Regulatory Activities oleh Marco Pio La Manna, Marco Pio La Manna, Valentina Orlando, Valentina Orlando, Elvezia Maria Paraboschi, Bartolo Tamburini, Bartolo Tamburini, Paola Di Carlo, Antonio Cascio, Rosanna Asselta, Rosanna Asselta, Francesco Dieli, Francesco Dieli, Nadia Caccamo, Nadia Caccamo

    Diterbitkan 2019-11-01
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  15. 15
    Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes

    Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes oleh Elvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, Donato Gemmati, Marta Spreafico, Stefano Duga, Giulia Soldà, Rosanna Asselta

    Diterbitkan 2015-09-01
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  16. 16
    The Role of Epigenetics in Primary Biliary Cholangitis

    The Role of Epigenetics in Primary Biliary Cholangitis oleh Alessio Gerussi, Elvezia Maria Paraboschi, Claudio Cappadona, Chiara Caime, Eleonora Binatti, Laura Cristoferi, Rosanna Asselta, Pietro Invernizzi

    Diterbitkan 2022-04-01
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  17. 17
    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

    Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. oleh Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà

    Diterbitkan 2017-01-01
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  18. 18
    Profiling the mutational landscape of coagulation factor V deficiency

    Profiling the mutational landscape of coagulation factor V deficiency oleh Elvezia Maria Paraboschi, Marzia Menegatti, Valeria Rimoldi, Munira Borhany, Magy Abdelwahab, Donato Gemmati, Flora Peyvandi, Stefano Duga, Rosanna Asselta

    Diterbitkan 2020-04-01
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  19. 19
    Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

    Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay oleh Manuela Platè, Stefano Duga, Luciano Baronciani, Silvia La Marca, Valentina Rubini, Pier Mannuccio Mannucci, Augusto B. Federici, Rosanna Asselta

    Diterbitkan 2010-01-01
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  20. 20
    Artificial intelligence for precision medicine in autoimmune liver disease

    Artificial intelligence for precision medicine in autoimmune liver disease oleh Alessio Gerussi, Alessio Gerussi, Miki Scaravaglio, Miki Scaravaglio, Laura Cristoferi, Laura Cristoferi, Laura Cristoferi, Damiano Verda, Chiara Milani, Chiara Milani, Elisabetta De Bernardi, Davide Ippolito, Rosanna Asselta, Rosanna Asselta, Pietro Invernizzi, Pietro Invernizzi, Jakob Nikolas Kather, Jakob Nikolas Kather, Marco Carbone, Marco Carbone

    Diterbitkan 2022-11-01
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