Search Results - Stefano Paolacci

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  1. 1
    Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

    Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment by Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli

    Published 2020
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  2. 2
    Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

    Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study by Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Monica Marica, Marta Balzarini, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli

    Published 2019
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  3. 3
    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome by Fanny Kortüm, Viviana Caputo, Christiane K. Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M. White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M. Campeau, Marco Tartaglia, Kerstin Kutsche

    Published 2015
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  4. 4
    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis by Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia

    Published 2014
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