Hasil Pencarian - Stefania Bigoni

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  1. 1
    Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

    Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome oleh Lucia Belen Musumano, Virginia Fancello, Laura Negossi, Elisa Ballardini, Stefania Bigoni, Andrea Ciorba

    Diterbitkan 2023-05-01
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  2. 2
    Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

    Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation oleh Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

    Diterbitkan 2021-01-01
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  3. 3
    Identification of a New Mutation in <i>RSK2</i>, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

    Identification of a New Mutation in <i>RSK2</i>, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes oleh Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo

    Diterbitkan 2021-08-01
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  4. 4
    Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

    Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles oleh Conor Keogh, Giorgio Pini, Adam H. Dyer, Stefania Bigoni, Pietro DiMarco, Ilaria Gemo, Richard Reilly, Daniela Tropea

    Diterbitkan 2018-10-01
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  5. 5
    The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

    The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population oleh Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto

    Diterbitkan 2023-02-01
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  6. 6
    Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

    Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy oleh Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L. Forni, Enrico Granieri

    Diterbitkan 2017-08-01
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  7. 7
    Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

    Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I oleh Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli, Stefania Bigoni, Elena Boschi, Davide Martorana, Antonio Percesepe

    Diterbitkan 2017-09-01
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  8. 8
    Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

    Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family oleh Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Mingyan Fang, Alessandra Ferlini, Alessandra Ferlini

    Diterbitkan 2019-01-01
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  9. 9
    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity oleh Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

    Diterbitkan 2023-01-01
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  10. 10
    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. oleh Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

    Diterbitkan 2011-07-01
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  11. 11
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome oleh Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

    Diterbitkan 2022-06-01
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