Search Results - Mazzuccato, Giorgia

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  1. 1
    Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

    Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH) by De Bonis, Maria, De Paolis, Elisa, Onori, Maria Elisabetta, Mazzuccato, Giorgia, Gatto, Antonio, Ferrara, Pietro, Ferraro, Pietro Manuel, Urbani, Andrea, Minucci, Angelo

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  2. 2
    High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment

    High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGT... by Mazzuccato, Giorgia, De Bonis, Maria, Carboni, Vittoria, Marchetti, Claudia, Urbani, Andrea, Scambia, Giovanni, Capoluongo, Ettore, Fagotti, Anna, Minucci, Angelo

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  3. 3
    Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn

    Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn by Canu, Giulia, De Paolis, Elisa, Righino, Benedetta, Mazzuccato, Giorgia, De Paolis, Giulio, Capoluongo, Ettore, De Rosa, Maria Cristina, Urbani, Andrea, Gunes, Adalet Meral, Minucci, Angelo

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  4. 4
    Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis

    Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis by Minucci, Angelo, Mazzuccato, Giorgia, D’Indinosante, Marco, Di Nardo, Lucia, Concolino, Paola, De Bonis, Maria, Urbani, Andrea, Scambia, Giovanni, Fagotti, Anna, Capoluongo, Ettore

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  5. 5
    Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

    Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence by Canu, Giulia, Mazzuccato, Giorgia, Urbani, Andrea, Minucci, Angelo

    Published in Human genome variation
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  6. 6
    High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report

    High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report by Costella, Alessandra, De Leo, Rossella, Guarino, Donatella, D’Indinosante, Marco, Concolino, Paola, Mazzuccato, Giorgia, Urbani, Andrea, Scambia, Giovanni, Capoluongo, Ettore, Fagotti, Anna, Minucci, Angelo

    Published in Human genome variation
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  7. 7
    Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans

    Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans by Minucci, Angelo, Onori, Maria Elisabetta, Mazzuccato, Giorgia, Urbani, Andrea, Capoluongo, Ettore

    Published in Clinical biochemistry
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  8. 8
    Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant

    Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant by Minucci, Angelo, Lalle, Maurizio, De Leo, Rossella, Mazzuccato, Giorgia, Scambia, Giovanni, Urbani, Andrea, Fagotti, Anna, Concolino, Paola, Capoluongo, Ettore

    Published in Clinical biochemistry
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  9. 9
    Identification of two novel LDLR variants by Next Generation Sequencing

    Identification of two novel LDLR variants by Next Generation Sequencing by Moffa, Simona, Mazzuccato, Giorgia, De Bonis, Maria, De Paolis, Elisa, Onori, Maria Elisabetta, Pontecorvi, Alfredo, Urbani, Andrea, Giaccari, Andrea, Capoluongo, Ettore, Minucci, Angelo

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  10. 10
    Serum Immunoglobulin G (IgG) Subclasses in a Cohort of Systemic Sclerosis Patients

    Serum Immunoglobulin G (IgG) Subclasses in a Cohort of Systemic Sclerosis Patients by Pellicano, Chiara, Colalillo, Amalia, Cusano, Giuseppina, Palladino, Andrea, Pellegrini, Marica, Callà, Cinzia Anna Maria, Mazzuccato, Giorgia, Carnazzo, Valeria, Pignalosa, Stefano, Di Biase, Luigi, Marino, Mariapaola, Basile, Umberto, Rosato, Edoardo

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  11. 11
    High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report

    High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report by Costella, Alessandra, De Leo, Rossella, Guarino, Donatella, D'Indinosante, Marco, Concolino, Paola, Mazzuccato, Giorgia, Urbani, Andrea, Scambia, Giovanni, Capoluongo, Ettore, Fagotti, Anna, Minucci, Angelo

    Published in Human genome variation
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