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Stefano Duga

Showing results (41-50 of 141) with videos related to

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Journal of Human Genetics|August 5, 2016
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosisLetizia Straniero, Giulia Soldà, Lucy Costantino, et al.
Biochimica Et Biophysica Acta|October 16, 2003
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain geneSilvia Spena, Rosanna Asselta, Stefano Duga, et al.
Blood Cells, Molecules & Diseases|August 5, 2008
Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretionManuela Platè, Rosanna Asselta, Silvia Spena, et al.
Human Molecular Genetics|December 20, 2018
Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosisGiulia Cardamone, Elvezia M Paraboschi, Giulia Soldà, et al.
International Journal of Molecular Sciences|October 6, 2015
Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory GenesElvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, et al.
Thrombosis and Haemostasis|March 11, 2008
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defectIlaria Guella, Giulia Soldà, Silvia Spena, et al.
Human Molecular Genetics|November 1, 2011
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processingGiulia Soldà, Michela Robusto, Paola Primignani, et al.
Frontiers in Genetics|March 1, 2021
<i>SLC22A4</i> Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest AfricaChiara Chiereghin, Michela Robusto, Lucia Mauri, et al.
Blood|April 9, 2004
Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemiaRosanna Asselta, Stefano Duga, Silvia Spena, et al.
American Journal of Respiratory Cell and Molecular Biology|January 26, 2013
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator geneLucy Costantino, Damiana Rusconi, Giulia Soldà, et al.
Pageof 15

Showing results (41-50 of 141) with videos related to

Sort By:
Pageof 15
Journal of Human Genetics|August 5, 2016
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosisLetizia Straniero, Giulia Soldà, Lucy Costantino, et al.
Biochimica Et Biophysica Acta|October 16, 2003
Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain geneSilvia Spena, Rosanna Asselta, Stefano Duga, et al.
Blood Cells, Molecules & Diseases|August 5, 2008
Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretionManuela Platè, Rosanna Asselta, Silvia Spena, et al.
Human Molecular Genetics|December 20, 2018
Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosisGiulia Cardamone, Elvezia M Paraboschi, Giulia Soldà, et al.
International Journal of Molecular Sciences|October 6, 2015
Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory GenesElvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, et al.
Thrombosis and Haemostasis|March 11, 2008
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defectIlaria Guella, Giulia Soldà, Silvia Spena, et al.
Human Molecular Genetics|November 1, 2011
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processingGiulia Soldà, Michela Robusto, Paola Primignani, et al.
Frontiers in Genetics|March 1, 2021
<i>SLC22A4</i> Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest AfricaChiara Chiereghin, Michela Robusto, Lucia Mauri, et al.
Blood|April 9, 2004
Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemiaRosanna Asselta, Stefano Duga, Silvia Spena, et al.
American Journal of Respiratory Cell and Molecular Biology|January 26, 2013
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator geneLucy Costantino, Damiana Rusconi, Giulia Soldà, et al.
Pageof 15