检索结果 - Francesco Saettini

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    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 由 Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    出版 2021
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    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement 由 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

    出版 2024
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