檢索結果 - Victoria R. Sanders

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    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition 由 Sarah E. Sheppard, Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana J. Slater, Ilona J. Frieden, Thy Huynh, Joseph T.C. Shieh, Ian D. Krantz, Jessenia Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo‐Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hákon Hákonarson

    出版 2023
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    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder 由 Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    出版 2018
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  3. 3
    De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

    De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms 由 Sandra Jansen, Ilse van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia, Zeynep Coban‐Akdemir, Anke Van Dijck, Diane Doummar, Albertien M. van Eerde, Anthonie J. van Essen, Koen L.I. van Gassen, María J. Guillen Sacoto, Mieke M. van Haelst, Ivan Iossifov, Jessica L. Jackson, Elizabeth Judd, Charu Kaiwar, Boris Keren, Eric W. Klee, Jolien S. Klein Wassink‐Ruiter, Marije Meuwissen, Kristin G. Monaghan, Sonja A. de Munnik, Caroline Nava, Charlotte W. Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R. Sanders, Rhonda E. Schnur, Eric J. Smeets, Alexander P.A. Stegmann, Asbjørg Stray‐Pedersen, David A. Sweetser, Paulien A. Terhal, Kristian Tveten, Grace E. VanNoy, Petra F. de Vries, Jessica L. Waxler, Marcia Willing, Rolph Pfundt, Joris A. Veltman, R. Frank Kooy, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    出版 2019
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    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 由 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

    出版 2020
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