Rezultati pretrage - Candace Muss

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  1. 1
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    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants od Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    Izdano 2022
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  4. 4

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders od Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Izdano 2021
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