Hasil Pencarian - Teresa Mattina

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  1. 1
    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants oleh Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Edoardo Errichiello, Teresa Mattina, Teresa Mattina, Orsetta Zuffardi

    Diterbitkan 2023-09-01
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  2. 2
    Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

    Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis oleh Edoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, Juha Paloneva, Juha Paloneva, Teresa Mattina, Orsetta Zuffardi

    Diterbitkan 2019-07-01
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  3. 3
    Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

    Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function oleh Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero

    Diterbitkan 2017-09-01
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  4. 4
    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature oleh Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino

    Diterbitkan 2021-02-01
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  5. 5
    A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study

    A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study oleh Giuseppe Lanza, Francesco Calì, Mirella Vinci, Filomena Irene Ilaria Cosentino, Mariangela Tripodi, Rosario Sebastiano Spada, Mariagiovanna Cantone, Rita Bella, Teresa Mattina, Raffaele Ferri

    Diterbitkan 2020-01-01
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  6. 6
    Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

    Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study oleh Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe

    Diterbitkan 2021-02-01
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  7. 7
    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 oleh Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebjærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido Cocchi

    Diterbitkan 2019-08-01
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  8. 8
    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association oleh Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi

    Diterbitkan 2022-12-01
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  9. 9
    Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

    Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) oleh Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini

    Diterbitkan 2021-01-01
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