检索结果 - Tina Barbaro‐Dieber

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  1. 1
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients 由 Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    出版 2020
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    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder 由 Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    出版 2019
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    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

    Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome 由 Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester Brown, Pilar Magoulas, Anne Chun‐Hui Tsai, Areeg El‐Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro‐Dieber, Mary K. Kukolich, Lindsay C. Burrage, Elise G. Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus A. Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J. Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid S. Azamian, Matthew N. Bainbridge, Donna M. Muzny, Eric Boerwinkle, Richard Person, Zhiyv Niu, Christine M. Eng, James R. Lupski, Richard A. Gibbs, Arthur L. Beaudet, Yaping Yang, Meng C. Wang, Fan Xia

    出版 2014
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