Rezultaty - Alessandra Murgia

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  1. 1
    Von Hippel-Lindau disease: an evaluation of natural history and functional disability

    Von Hippel-Lindau disease: an evaluation of natural history and functional disability od Alberto Feletti, Mariagiulia Anglani, Bruno Scarpa, Francesca Schiavi, Francesca Boaretto, Stefania Zovato, Elisa Taschin, Mario Gardi, Elisabetta Zanoletti, Stefano Piermarocchi, Alessandra Murgia, Giacomo Pavesi, Giuseppe Opocher

    Wydane 2016
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  2. 2
    Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents

    Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents od Randi Hagerman, Sébastien Jacquemont, Elizabeth Berry‐Kravis, Vincent des Portes, Andrew C. Stanfield, Barbara Koumaras, G. Rosenkranz, Alessandra Murgia, Christian Wolf, George Apostol, Florian von Raison

    Wydane 2018
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  3. 3
    The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

    The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy od Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nicholas de Klerk, Helen Leonard, John Christodoulou

    Wydane 2012
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  4. 4
    Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities

    Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities od Grazia Tortorelli, Luana Di Murro, Rosaria Barbarino, Sara Cicchetti, Daniela di Cristino, M.D. Falco, D. Fedele, Gianluca Ingrosso, Dania Janniello, Pasquale Morelli, Alessandra Murgia, Elisabetta Ponti, Sara Terenzi, Barbara Tolu, Riccardo Santoni

    Wydane 2013
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  5. 5
    AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

    AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission od Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson, Montserrat Naudó, Jordi Genovès, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J. Latham, Andrew G. Hadd, Elizabeth Berry‐Kravis, Flora Tassone

    Wydane 2014
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  6. 6
    A novel DFNB1 deletion allele supports the existence of a distant <i>cis</i>‐regulatory region that controls <i>GJB2</i> and <i>GJB6</i> expression

    A novel DFNB1 deletion allele supports the existence of a distant <i>cis</i>‐regulatory region that controls <i>GJB2</i> and <i>GJB6</i> expression od Ellen Wilch, Héla Azaiez, R. A. Fisher, Jill L. Elfenbein, Alessandra Murgia, Ralf Birkenhäger, Hanno J. Bolz, SM Da Silva‐Costa, Ignacio del Castillo, Thomas Haaf, Lies H. Hoefsloot, Hannie Kremer, Christian Kubisch, Cédric Le Maréchal, Arti Pandya, EL Sartorato, E. Schneider, Guy Van Camp, Wim Wuyts, Richard J. Smith, KH Friderici

    Wydane 2010
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  7. 7
    Characterization of intellectual disability and autism comorbidity through gene panel sequencing

    Characterization of intellectual disability and autism comorbidity through gene panel sequencing od Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, Irene Toldo, Fiorenza Soli, Licia Turolla, Franco Stanzial, Francesco Benedicenti, Cristina Marino‐Buslje, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi

    Wydane 2019
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  8. 8
    Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

    Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow od David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy Skinner, Angelica M. Alliende, Lorena Santa María, James Pitt, Ronda F. Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor

    Wydane 2022
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  9. 9
    CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

    CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs) od Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Yexian Zhang, Qi Li, Maggie Haitian Wang, Giulia Babbi, Samuele Bovo, Pier Luigi Martelli, Rita Casadio, Azza Althagafi, Sumyyah Toonsi, Maxat Kulmanov, Robert Hoehndorf, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Xian Su, Wesley Surento, Vikas Pejaver, Sean D. Mooney, Uma Sunderam, Rajgopal Srinivasan, Alessandra Murgia, Damiano Piovesan, Silvio C. E. Tosatto, Emanuela Leonardi

    Wydane 2025
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  10. 10
    A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

    A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impai... od Francisco Castillo, Montserrat Rodriguez‐Ballesteros, Araceli Álvarez, Tim Hutchin, Emanuela Leonardi, Camila Andréa de Oliveira, Héla Azaiez, Zippora Brownstein, Matthew R. Avenarius, Sandrine Marlin, Arti Pandya, Hashem Shahin, Kirby Siemering, Dominique Weil, Wim Wuyts, Luis A. Aguirre, Y. Martin, Miguel A. Moreno‐Pelayo, Manuela Villamar, Karen B. Avraham, H H Dahl, Moien Kanaan, W E Nance, Christine Petit, Richard J. Smith, Guy Van Camp, Edi Lúcia Sartorato, Alessandra Murgia, Felipe Moreno, Ignacio del Castillo

    Wydane 2005
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  11. 11
    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

    GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study od Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, J Waligora, Małgorzata Mueller‐Malesińska, Agnieszka Pollak, Rafał Płoski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwińska, Jerzy Bal, Wojciech Wiszniewski, Andreas Janecke, Doris Nekahm-Heis, Pavel Seeman, O. Bendová, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armağan İncesulu, Hans‐Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner‐Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, István Sziklai, Tímea Tóth, Philip M. Kelley, Edward Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne‐Françoise Roux, M. Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Grønskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina‐Granade, Nathalie Pallares‐Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla Nishimura, Richard J. Smith, Guy Van Camp

    Wydane 2005
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  12. 12
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders od Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Wydane 2019
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  13. 13
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis od Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Wydane 2023
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