Hakutulokset - Claudio Graziano

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  1. 1
    Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study

    Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study Tekijä Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe

    Julkaistu 2025
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  2. 2
    De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

    De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism Tekijä Ash Zawerton, Baojin Yao, J. Paige Yeager, Tommaso Pippucci, Abdul Haseeb, Joshua D. Smith, Lisa Wischmann, Susanne J. Kühl, John Dean, Daniela T. Pilz, Susan Holder, Alisdair McNeill, Claudio Graziano, Véronique Lefebvre

    Julkaistu 2019
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  3. 3
    HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

    HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain Tekijä Lachlan A. Jolly, Lam Son Nguyen, Deepti Domingo, Yongsheng Sun, Simon C. Barry, Miroslava Hančárová, Pavlína Plevová, Markéta Vlčková, Markéta Havlovičová, Vera M. Kalscheuer, Claudio Graziano, Tommaso Pippucci, Elena Bonora, Zdeněk Sedláček, Jozef Gécz

    Julkaistu 2015
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  4. 4
    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

    Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>) Tekijä Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas Winder, Hanns Lochmà ⁄ ller, Claudio Graziano, Stella Mitrani‐Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs, Kristen L. Nowak

    Julkaistu 2009
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  5. 5
    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability Tekijä А. А. Кашеварова, Л. П. Назаренко, Soren Schultz-Pedersen, N. A. Skryabin, Olga A. Salyukova, Nataliya N. Chechetkina, Е. Н. Толмачева, А. А. Рудко, Pamela Magini, Claudio Graziano, G. Cara Romeo, Shelagh Joss, Zeynep Tümer, И. Н. Лебедев

    Julkaistu 2014
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  6. 6
    Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

    Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing Tekijä Isabella Bernardis, Laura Chiesi, Elena Tenedini, Lucia Artuso, Antonio Percesepe, Valentina Artusi, Maria Luisa Simone, Rossella Manfredini, Monica Camparini, Chiara Rinaldi, Antonio P. Ciardella, Claudio Graziano, Nicole Balducci, Antonia Tranchina, Gian Maria Cavallini, Antonello Pietrangelo, Valeria Marigo, Enrico Tagliafico

    Julkaistu 2016
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  7. 7
    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients

    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients Tekijä Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, Elena Maestrini, Marco Seri, G. Cara Romeo

    Julkaistu 2014
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  8. 8
    Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

    Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction Tekijä Elena Bonora, Francesca Bianco, Lina Cordeddu, Michael J. Bamshad, Ludmila Francescatto, Dustin Dowless, Vincenzo Stanghellini, Rosanna Cogliandro, Greger Lindberg, Zeynel Mungan, Kıvanç Çefle, Tayfun Özçelık, Şükrü Palanduz, Şükrü Öztürk, Asuman Gedikbaşı, Alessandra Gori, Tommaso Pippucci, Claudio Graziano, Umberto Volta, Giacomo Caio, Giovanni Barbara, Mauro D’Amato, Marco Seri, Nicholas Katsanis, G. Cara Romeo, Roberto De Giorgio

    Julkaistu 2015
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  9. 9
    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes Tekijä Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski

    Julkaistu 2016
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  10. 10
    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study Tekijä Angelica D’Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques Lourenço, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Alessandro Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, António Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo M. Santorelli

    Julkaistu 2018
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  11. 11
    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy

    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy Tekijä Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Courtin, Klaas J. Wierenga, Bertrand Isidor, Amélie Piton, Laurence Faivre, Aurore Garde, Sébastien Moutton, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christine Coubes, Austin Larson, Michael J. Esser, Juan Pablo Appendino, Walla Al‐Hertani, Beatriz Gamboni, Alejandra Mampel, Lía Mayorga, Alessandro Orsini, Alice Bonuccelli, Agnese Suppiej, Julien Van‐Gils, Julie Vogt, Simona Damioli, Lucio Giordano, Stéphanie Moortgat, Elaine Wirrell, Sarah Hicks, Usha Kini, Nathan Noble, Helen Stewart, Shailesh Asakar, Julie S. Cohen, Sakkubai Naidu, Ashley Collier, Eva H. Brilstra, Mindy H. Li, Casey Brew, Stefania Bigoni, Davide Ognibene, Elisa Ballardini, Claudia Ruivenkamp, Raffaella Faggioli, Alexandra Afenjar, Diana Rodriguez, David Bick, Devorah Segal, David Coman, Boudewijn Gunning, Orrin Devinsky, Laurie Demmer, Theresa A. Grebe, Dario Pruna, Ida Cursio, Lynn Greenhalgh, Claudio Graziano, Rahul Raman Singh, Gaetano Cantalupo, Marjolaine Willems, Sangeetha Yoganathan, Fernanda Veiga de Góes, Richard J. Leventer, Davide Colavito, Sara Olivotto, Barbara Scelsa, Andrea Andrade, Kelly Ratke, F Tokarz, Atiya Khan, Clothilde Ormières, William Benko, Karen Keough, Sotirios Keros, Shanawaz Hussain, Ashlea Franques, Felicia Varsalone, Sabine Grønborg, Cyril Mignot, Delphine Héron, Caroline Nava, Arnaud Isapof, Felippe Borlot, Robyn Whitney, Anne Ronan, Nicola Foulds, Marta Somorai, John F. Brandsema, Katherine L. Helbig, Ingo Helbig, Xilma R. Ortiz‐González, Holly Dubbs, Antonio Vitobello

    Julkaistu 2021
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  12. 12
    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Tekijä Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun

    Julkaistu 2024
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