Výsledky vyhledávání - Anna M. Cueto‐González

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  1. 1
    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

    Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome Autor Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya

    Vydáno 2013
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  2. 2
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Autor Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    Vydáno 2024
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  3. 3
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Autor Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Vydáno 2024
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