Хайлтын үр дүнгүүд - Hagith Yonath

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  1. 1
    Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

    Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes -н Linda M. Reis, Rebecca C. Tyler, Sanaa Muheisen, Víctor Raggio, Leonardo Salviati, Dennis P. Han, Deborah M. Costakos, Hagith Yonath, Sarah Hall, Patricia Power, Elena V. Semina

    Хэвлэсэн 2013
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    Artigo
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  2. 2
    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes -н Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, Victoria B. Enciso, David T. Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E. Keegan, V. Reid Sutton, John W. Belmont, A. Craig Chinault, James R. Lupski, Sau Wai Cheung, Elizabeth Roeder, Ankita Patel

    Хэвлэсэн 2008
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    Artigo
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  3. 3
    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling -н Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Hadas Ityel, Johanna Magdalena Schmidt, Eugen Widmeier, Stuart B. Bauer, Simone Sanna‐Cherchi, Ali G. Gharavi, Lu W, Daniella Magen, Rachel Shukrun, Richard P. Lifton, Velibor Tasić, Horia Stanescu, Vincent Cavaillès, Robert Kleta, Yair Anikster, Benjamin Dekel, Andreas Kispert, Soeren S. Lienkamp, Friedhelm Hildebrandt

    Хэвлэсэн 2017
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    Artigo
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  4. 4
    Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

    Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies -н Martín Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado‐Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez‐Jáimez, Víctor M. Hidalgo-Olivares, Enrique García‐Campo, Chiara Lanzillo, M. Paz Suárez-Mier, Hagith Yonath, Sonia Marcos‐Alonso, Juan Pablo Ochoa, José L. Santomé, Diego García-Giustiniani, Jorge Rodríguez-Garrido, Fernándo Domínguez, Marco Merlo, Julián Palomino, María Luisa Peña Peña, Juan Pablo Trujillo‐Quintero, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara‐Pezzi, Francisco Calvo, Eyal Nof, Leonardo Calò, Roberto Barriales‐Villa, Juan R. Gimeno, Michael Arad, Pablo García‐Pavía, Lorenzo Monserrat

    Хэвлэсэн 2016
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    Artigo
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  5. 5
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability -н Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    Хэвлэсэн 2023
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    Artigo
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