Hasil Pencarian - Roberta Bottega

  • Menampilkan 1 - 15 hasil dari 15
Perbaiki Hasil
  1. 1
    Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event

    Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event oleh Ilaria Persico, Ilaria Fiscarelli, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini, Barbara Pasini, Anna Savoia, Roberta Bottega

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Fanconi anemia patients are more susceptible to infection with tumor virus SV40.

    Fanconi anemia patients are more susceptible to infection with tumor virus SV40. oleh Manola Comar, Manola Comar, Daniela De Rocco, Enrico Cappelli, Nunzia Zanotta, Roberta Bottega, Johanna Svahn, Piero Farruggia, Aldo Misuraca, Fabio Corsolini, Carlo Dufour, Anna Savoia

    Diterbitkan 2013-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation

    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation oleh Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci, Anna Savoia, Roberta Bottega

    Diterbitkan 2021-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

    Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations oleh Anna Savoia, Annalisa Pastore, Daniela De Rocco, Elisa Civaschi, Mariateresa Di Stazio, Roberta Bottega, Federica Melazzini, Valeria Bozzi, Alessandro Pecci, Silvana Magrin, Carlo L. Balduini, Patrizia Noris

    Diterbitkan 2011-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

    Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency oleh Roberta Bottega, Alessandro Pecci, Erica De Candia, Nuria Pujol-Moix, Paula G. Heller, Patrizia Noris, Daniela De Rocco, Gian Marco Podda, Ana C. Glembotsky, Marco Cattaneo, Carlo L. Balduini, Anna Savoia

    Diterbitkan 2013-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

    ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism oleh Michela Faleschini, Daniele Ammeti, Nicole Papa, Caterina Alfano, Roberta Bottega, Giorgia Fontana, Valeria Capaci, Melania E. Zanchetta, Federico Pozzani, Francesca Montanari, Valeria Petroni, Paola Giordano, Patrizia Noris, Fiorina Giona, Anna Savoia

    Diterbitkan 2022-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

    Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia oleh Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

    Diterbitkan 2018-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

    Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis oleh Ilaria Persico, Agnese Feresin, Michela Faleschini, Giorgia Fontana, Fabio Sirchia, Flavio Faletra, Martina La Bianca, Sarah Suergiu, Marcello Morgutti, Massimo Maschio, Adamo Pio D'Adamo, Karen S. Raraigh, Anna Savoia, Roberta Bottega

    Diterbitkan 2022-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

    Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup oleh Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Elena Nardi, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L. Balduini, Anna Savoia, Marco Seri, Patrizia Noris, Tommaso Pippucci

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

    A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation oleh Ilaria Persico, Ilaria Persico, Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Massimo Bogliolo, Jordi Surrallés, Jordi Surrallés, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega

    Diterbitkan 2023-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

    Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation... oleh Patrizia Noris, Silverio Perrotta, Roberta Bottega, Alessandro Pecci, Federica Melazzini, Elisa Civaschi, Sabina Russo, Silvana Magrin, Giuseppe Loffredo, Veronica Di Salvo, Giovanna Russo, Maddalena Casale, Daniela De Rocco, Claudio Grignani, Marco Cattaneo, Carlo Baronci, Alfredo Dragani, Veronica Albano, Momcilo Jankovic, Saverio Scianguetta, Anna Savoia, Carlo L. Balduini

    Diterbitkan 2012-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme oleh Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

    Diterbitkan 2021-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology oleh Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

    Diterbitkan 2014-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology oleh Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

    Diterbitkan 2014-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

    Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia oleh Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Nuria Pujol-Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger-Cannard, Adam Cuker, Paquita Nurden, Andreas Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, Marie-Françoise Hurtaud-Roux, Ana C. Glembotsky, Eduardo Muñiz-Diaz, Maria Luigia Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L. Balduini, Sophie Bayart, Anne Bauters, Schéhérazade Benabdallah-Guedira, Françoise Boehlen, Jeanne-Yvonne Borg, Roberta Bottega, James Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, Dominique Fleury, Pierre Fontana, Chloé James, Francois Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin-Coignard, Fanny Menard, Sandra Mercier, Annamaria Mezzasoma, Pietro Minuz, Ilaria Nichele, Lucia D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, Agnes Rigouzzo, Bruno Royer, Pierre Sie, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri

    Diterbitkan 2014-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: