Resultados de procura - Erin Beaver

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  1. 1
    Mobile element insertion detection in 89,874 clinical exomes

    Mobile element insertion detection in 89,874 clinical exomes por Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley, Erin Beaver, Lorne A. Clarke, Sarah Neil‐Sztramko, Jagdeep S. Walia, Danna Hull, Jane Juusola, Kyle Retterer

    Publicado 2020
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  2. 2
    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

    Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability por Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer Heeley, Līvija Medne, Ian D. Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B. Henderson, Ingrid M. Wentzensen, Berivan Baskin, María J. Guillen Sacoto, Gregory D. Bowman, Hans T. Björnsson

    Publicado 2017
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  3. 3
    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

    WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome por Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yılmaz Güleç, Francis Ramond, Renaud Touraine, Julien Thévenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover‐Fong, Ceren Damla Durmaz, Halil Gürhan Karabulut, Ebru Marzioğlu Özdemir, Atilla Çayır, Mehmet Buğrahan Düz, Mehmet Seven, Susan Price, Bárbara Merfort Ferreira, Angela Maria Vianna‐Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho

    Publicado 2017
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  4. 4
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 por Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Publicado 2020
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