Hasil Pencarian - Maria Adelaide Caligo

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  1. 1
    Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast

    Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast oleh Alvaro Galli, Francesca Bellè, Arcangelo Fargnoli, Maria Adelaide Caligo, Tiziana Cervelli

    Diterbitkan 2024-07-01
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  2. 2
    Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants

    Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants oleh Francesca Bellè, Alberto Mercatanti, Samuele Lodovichi, Caterina Congregati, Chiara Guglielmi, Mariella Tancredi, Maria Adelaide Caligo, Tiziana Cervelli, Alvaro Galli

    Diterbitkan 2022-04-01
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  3. 3
    Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

    Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review oleh Giulia Bertolucci, Nina Tyutyusheva, Margherita Sepich, Fulvia Baldinotti, Maria Adelaide Caligo, Maria Rita Sessa, Diego Giampiero Peroni, Silvano Bertelloni

    Diterbitkan 2023-09-01
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  4. 4
    Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

    Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype oleh Silvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, Franco D'Alberton, Fulvia Baldinotti, Maria Adelaide Caligo, Giampiero I. Baroncelli, Diego G. Peroni

    Diterbitkan 2021-04-01
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  5. 5
    A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

    A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report oleh Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta

    Diterbitkan 2020-11-01
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  6. 6
    The <i>BRCA1</i> c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times

    The <i>BRCA1</i> c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times oleh Paolo Aretini, Silvano Presciuttini, Aldo Pastore, Alvaro Galli, Sara Panepinto, Mariella Tancredi, Matteo Ghilli, Chiara Guglielmi, Diletta Sidoti, Caterina Congregati, Maria Adelaide Caligo

    Diterbitkan 2023-10-01
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  7. 7
    Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome

    Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome oleh Laura Pierotti, Elena Pardi, Elisa Dinoi, Paolo Piaggi, Simona Borsari, Simone Della Valentina, Chiara Sardella, Angela Michelucci, Maria Adelaide Caligo, Fausto Bogazzi, Claudio Marcocci, Claudio Marcocci, Filomena Cetani

    Diterbitkan 2023-07-01
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  8. 8
    Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

    Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome oleh Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo

    Diterbitkan 2018-07-01
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  9. 9
    The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report

    The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report oleh Elisa Dinoi, Alessandro Prete, Chiara Sardella, Laura Pierotti, Simone Della Valentina, Anna Dal Lago, Simona Borsari, Elena Pardi, Maria Adelaide Caligo, Angela Michelucci, Liborio Torregrossa, Piercarlo Rossi, Filomena Cetani

    Diterbitkan 2024-10-01
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  10. 10
    Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development

    Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development oleh Luisa Maresca, Samuele Lodovichi, Samuele Lodovichi, Alessandra Lorenzoni, Tiziana Cervelli, Rossella Monaco, Laura Spugnesi, Mariella Tancredi, Elisabetta Falaschi, Katia Zavaglia, Elisabetta Landucci, Manuela Roncella, Caterina Congregati, Angiolo Gadducci, Antonio Giuseppe Naccarato, Maria Adelaide Caligo, Alvaro Galli

    Diterbitkan 2018-09-01
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  11. 11
    Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

    Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions oleh Chiara Guglielmi, Rosa Scarpitta, Gaetana Gambino, Eleonora Conti, Francesca Bellè, Mariella Tancredi, Tiziana Cervelli, Elisabetta Falaschi, Cinzia Cosini, Paolo Aretini, Caterina Congregati, Marco Marino, Margherita Patruno, Brunella Pilato, Francesca Spina, Luisa Balestrino, Elena Tenedini, Ileana Carnevali, Laura Cortesi, Enrico Tagliafico, Maria Grazia Tibiletti, Stefania Tommasi, Matteo Ghilli, Caterina Vivanet, Alvaro Galli, Maria Adelaide Caligo

    Diterbitkan 2021-07-01
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