Αποτελέσματα αναζήτησης - Mirella Bruttini

  • Εμφανίζονται 1 - 15 Αποτελέσματα από 15
Περιορισμός αποτελεσμάτων
  1. 1
    Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

    Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication από Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Joussef Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renieri

    Έκδοση 2004
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    Preserved speech variant is allelic of classic Rett syndrome

    Preserved speech variant is allelic of classic Rett syndrome από Cristina De Bona, Michele Zappella, Joussef Hayek, Ilaria Meloni, Francesca Vitelli, Mirella Bruttini, Roberto Cusano, Paola Loffredo, Ilaria Longo, Alessandra Renieri

    Έκδοση 2000
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

    A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males από Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri

    Έκδοση 2000
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

    FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation από Monica Piccini, Francesca Vitelli, Mirella Bruttini, Barbara R. Pober, Jón J. Jónsson, Marcello Villanova, Massimo Zollo, Giuseppe Borsani, Andrea Ballabio, Alessandra Renieri

    Έκδοση 1998
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    Advances in Alport syndrome diagnosis using next-generation sequencing

    Advances in Alport syndrome diagnosis using next-generation sequencing από Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri, Mirella Bruttini

    Έκδοση 2011
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome από Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Groß, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P. Gale, Mato Nagel, Michael Yau, Lev Shagam, Roser Torrá, Elisabet Ars, Julia Hoefele, Guido Garosi, Helen Storey

    Έκδοση 2018
    Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

    Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome από Elena Marcocci, Vera Uliana, Mirella Bruttini, Rosangela Artuso, Margherita Silengo, Marlenka Zerial, Franco Bergesio, Antonio Amoroso, Silvana Savoldi, Marco Pennesi, Daniela Giachino, Giuseppe Rombolà, Giovanni B. Fogazzi, Maria Cristina Rosatelli, Ciro Dresch Martinhago, Mario Carmellini, Roberta Mancini, Giuseppina Di Costanzo, Ilaria Longo, Alessandra Renieri, Francesca Mari

    Έκδοση 2009
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    Evidence of digenic inheritance in Alport syndrome

    Evidence of digenic inheritance in Alport syndrome από Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A. Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, H.J.M. Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing από Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina S. Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population από Elisa Benetti, Tita Rossella, Ottavia Spiga, Andrea Ciolfi, Birolo Giovanni, Alessandro Bruselles, Doddato Gabriella, Giliberti Annarita, Marconi Caterina, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Trezza Alfonso, Valentino Floriana, Baldassarri Margherita, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Alessandra Renieri, Anna Maria Pinto

    Έκδοση 2020
    Λήψη πλήρους κειμένου
    Pré-impressão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

    Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research από Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, Floriana Valentino, Gabriella Doddato, Elisa Benetti, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Ilaria Meloni, Anna Maria Pinto, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Nicola Picchiotti, Marco Gori, Pietro Pinoli, Stefano Ceri, Maurizio Sanarico, Francis P. Crawley, Giovanni Birolo, Alessandra Renieri, Francesca Mari, Elisa Frullanti

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population από Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Elisa Frullanti, Chiara Fallerini, Sergio Daga, Susanna Croci, Sara Amitrano, Francesca Fava, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Arianna Emiliozzi, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennet, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Raffaele Scala, Genni Spargi, Marta Corridi, Cesira Nencioni, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Maria Bandini, Elena Desanctis, Anna Canaccini, Chiara Spertilli, Alice Donati, Luca Guidelli, Leonardo Croci, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella d’Arminio Monforte, Esther Merlini, Mario U. Mondelli, Stefania Mantovani, Serena Ludovisi, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Paola Magro, C Minardi, Deborah Castelli, I Polesini, Matteo Della Monica, Carmelo Piscopo

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study από Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quirós-Roldán, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Laura Di Sarno, Giada Beligni, Andréa Tommasi, Nicola Iuso, Francesca Montagnani, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Davide Romani, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Arianna Gabrieli, Agostino Riva, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Melania Degli Antoni, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon

    Έκδοση 2021
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients από Stefania Mantovani, Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Elisa Benetti, Nicola Picchiotti, Francesca Fava, Anna Gallì, Silvia Zibellini, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Diana Alaverdian, Katia Capitani, Simone Furini, Francesca Mari, Ilaria Meloni, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Barbara Rossetti, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Raffaele Bruno, Marco Vecchia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Andrea Tommasi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Filippo Aucella

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males από Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Domínguez-Garrido, Laura Planas‐Serra, Agatha Schlüter, Roger Colobrán, Pere Soler‐Palacín, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Fausta Sestini, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Alice Donati, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella d’Arminio Monforte, Esther Merlini, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Pier Giorgio Scotton, Francesca Andretta

    Έκδοση 2021
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

Εργαλεία αναζήτησης: