Resultats de la cerca - Mafalda Mucciolo

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  1. 1
    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>

    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i> per Christina Halgren, Søren K. Kjærgaard, Mads Bak, Christine Søholm Hansen, Zahra El-Schich, CM Anderson, KF Henriksen, Helle Hjalgrim, Maria Kirchhoff, EK Bijlsma, Maartje Nielsen, NS den Hollander, CAL Ruivenkamp, Bertrand Isidor, Cédric Le Caignec, Raffaella Zannolli, Mafalda Mucciolo, Alessandra Renieri, Francesca Mari, BM Anderlid, J Andrieux, Anne Dieux, Niels Tommerup, Iben Bache

    Publicat 2011
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  2. 2
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation per Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    Publicat 2012
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  3. 3
    The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022

    The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022 per Novella Rapini, Maurizio Delvecchio, Mafalda Mucciolo, Rosario Ruta, Ivana Rabbone, Valentino Cherubini, Stefano Zucchini, Stefano Cianfarani, Elena Prandi, Riccardo Schiaffini, Carla Bizzarri, Barbara Piccini, Giulio Maltoni, Barbara Predieri, Nicola Minuto, Rossella Di Paola, Mara Giordano, Nadia Tinto, V. Grasso, Lucia Russo, Valentina Tiberi, Andrea Scaramuzza, Giulio Frontino, Maria Cristina Maggio, Gianluca Musolino, Elvira Piccinno, Davide Tinti, Paola Carrera, Enza Mozzillo, Marco Cappa, Dario Iafusco, Riccardo Bonfanti, Antonio Novelli, Fabrizio Barbetti, Luciano Beccaria, Francesco Candia, Vittoria Cauvin, Roberta Cardani, Francesca Cardella, Anna Favia, Francesco Gallo, Patrizia Garzia, Paolo Ghirri, Stefania Innaurato, Lorenzo Iughetti, Nicola Laforgia, Donatella Lo Presti, Alberto Marsciani, Franco Meschi, Rossana Panzeca, B Pasquino, Roberta Pesavento, Giulia Pezzino, Petra Reinstadler, Carlo Ripoli, Silvia Savastio, Tiziana Timpanaro, Stefano Tumini, Gianni Vento

    Publicat 2024
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  4. 4
    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology per Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, J. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Eugenia Migliavacca, Katrin Männik, Louise Harewood, Maria Nicla Loviglio, Robert M. Witwicki, Gérard Didelot, Ilse van der Werf, Ali Abdullah Alfaiz, Marianna Zazhytska, Giuliana Giannuzzi, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltán Kutalik, Loyse Hippolyte, Anne Maillard, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Béna, Anita Rauch, Sonia Bouquillon, Joris Andrieux, Bruno Delobel, Odile Boute, Bénédicte Duban‐Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiésa, Boris Keren, Brigitte Gilbert‐Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck, Michèle Mathieu‐Dramard, Ghislaine Plessis, R. Frank Kooy, Hilde Peeters, Katrin Õunap, Anneke T. Vulto‐van Silfhout, Bert Ba de Vries, Ellen van Binsbergen, Mieke M. van Haelst, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan‐Separovic, John A. Philipps, Richard J. Ellis, J. Beckmann, Sébastien Jacquemont, Alexandre Reymond

    Publicat 2015
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