खोज परिणाम - Claudia Castiglioni

  • प्रदर्शित 1 - 8 परिणाम 8
परिणाम को परिष्कृत करें
  1. 1
    TNAP expressing adventitial pericytes contribute to myogenesis during foetal development

    TNAP expressing adventitial pericytes contribute to myogenesis during foetal development द्वारा Irene Fancello, S Willett, Claudia Castiglioni, Said Amer, Sabrina Santoleri, Laricia Bragg, Francesco Galli, Giulio Cossu

    प्रकाशित 2025
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  2. 2
    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor द्वारा Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, Sean Vandevoort, Greet D'Haenens, Griet Van Buggenhout, Lore Leempoels, Elise Brischoux‐Boucher, Lionel Van Maldergem, Alessandra Renieri, Maria Antonietta Mencarelli, Carla S. D’Angelo, Verónica Mericq, Mariëtte J.V. Hoffer, Maïthé Tauber, Catherine Molinas, Claudia Castiglioni, Nathalie Brison, Joris Vermeesch, Marina Danckaerts, Pascal Sienaert, Koenraad Devriendt, Annick Vogels

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  3. 3
    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort द्वारा Susana Quijano‐Roy, Jana Haberlová, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, M. Gómez García de la Banda, Giorgio Tasca, Laura Costa-Comellas, A. Bénézit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Béroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sánchez‐Montáñez, Ximena Ortega, Martin Kynčl, Corinne Métay, David Gómez‐Andrés, Robert Carlier

    प्रकाशित 2021
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    Artigo
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    में बचाया:
  4. 4
    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy द्वारा Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, Victoria González, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, María L. Cuadrado, Marianne de Visser, Isabelle Desguerre, B. Eymard, Nathalie Goemans, Angela M. Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, M. Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter‐Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloğlu, J. Andoni Urtizberea, Anneke J. van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, B. Estournet, Pascale Richard, Susana Quijano‐Roy, Ulrike Schara, Ana Ferreiro

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  5. 5
    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy

    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy द्वारा Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, A. Nascimento, Lorenzo Maggi, Anna Sárközy, Soledad Monges, Marta Bértoli, Hirofumi Komaki, M. Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini‐Bettolo, Adele D’Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel‐Giannetti, Akihiko Ishiyama, Karin Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M. Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez‐Andrés, A. Reghan Foley, Susana Quijano‐Roy, Carsten G. Bönnemann, Gisèle Bonne

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  6. 6
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation द्वारा Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study द्वारा Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Bârcă, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, I.F.M. de Coo, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Marjo S. van der Knaap, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klára Roženková, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A.M. Stals, Athanasia Stoupa, Gopinath M. Subramanian, Davide Tonduti, Serap Turan, Corstiaan A. den Uil, Joel A. Vanderniet, Adri van der Walt, Jean‐Louis Wémeau, Jolante Wierzba, Marie‐Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, W. Edward Visser

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  8. 8
    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration द्वारा Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa

    प्रकाशित 2025
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    Artigo
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