检索结果 - Anna Kutkowska‐Kaźmierczak

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  1. 1
    The <i>COL7A1</i> mutation database

    The <i>COL7A1</i> mutation database 由 Katarzyna Wertheim‐Tysarowska, Agnieszka Sobczyńska‐Tomaszewska, Cezary Kowaléwski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska‐Kaźmierczak, Katarzyna Woźniak, Jerzy Bal

    出版 2011
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  2. 2
    Exome sequencing identifies<i>DYNC2H1</i>mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

    Exome sequencing identifies<i>DYNC2H1</i>mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement 由 Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers, Zhimin Yap, Machteld M. Oud, Dinu Antony, Lonneke Duijkers, Richard D. Emes, Jim Stalker, J.L. Yntema, Vincent Plagnol, Alexander Hoischen, Christian Gilissen, Elisabeth Forsythe, Ekkehart Lausch, Joris A. Veltman, Nel Roeleveld, Andrea Superti‐Furga, Anna Kutkowska‐Kaźmierczak, Erik‐Jan Kamsteeg, Nursel Elçioğlu, Merel C. van Maarle, Luitgard Graul‐Neumann, Koenraad Devriendt, Sarah Smithson, Diana Wellesley, Nienke E. Verbeek, Raoul C. M. Hennekam, Hülya Kayserili, Peter Scambler, Philip L. Beales, Nine Knoers, Ronald Roepman, Hannah M. Mitchison

    出版 2013
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  3. 3
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care 由 Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    出版 2018
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