檢索結果 - Rachel Palmquist
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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit 由 Sabrina Malone Jenkins, Rachel Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pınar Bayrak‐Toydemir, Rong Mao, John J. Farrell, Carson Holt, Shawn Rynearson, Chelsea Solorzano, Alistair Ward, D. Hunter Best, Najla Al‐Sweel, Dawn Bentley, Luca Brunelli, Clement Y. Chow, Devin Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, E Eide, Luaiva Floyd, E. D. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernández, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey Nicholson, Katherine Noble, Brendan O’Fallon, John O'shea, David C. Pattison, Brent S. Pedersen, B. Petersen, Bennet Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul M. Rindler, Carrie Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gábor Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani‐Firouzi, Joshua L. Bonkowsky
出版 2025Artigo -
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice 由 Dianalee McKnight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Μ. Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos‐Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman‐Englert, Rebecca J. Levy, Venu Parachuri, Guillermo Lay‐Son, David José Dávila‐Ortiz de Montellano, Miguel Ángel Ramírez-García, Edmar Benitez-Alonso, Julie Ziobro, Adela Chiriţă-Emandi, Têmis Maria Félix, Dianne Kulasa-Luke, André Mégarbané, Shefali Karkare, Sarah Chagnon, Jennifer Humberson, Melissa Assaf, Sebastián Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, О.О. Miroshnikov, Britton Zuccarelli, Louise Amlie‐Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan Candee, Caleb Bupp, Kristen Park, Eric Muller, Pamela J. Lupo, Robert C. Pedersen, Amir Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa Kellogg, Evelyn G. Lora, Robert P. Carson, V.O. Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, T. Stetsenko, Milagros Dueñas, Joseph Trasmonte, Rebecca Burke, Anna Hurst, Douglas M. Smith, Lauren Massingham, Laura Rosa Pisani, Carrie E. Costin, Betsy Ostrander, Francis Filloux, Amitha Ananth, Ismail Mohamed, Alla Nechai, Jasmin M. Dao, Michael Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela M. Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha
出版 2022Artigo -
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 由 Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi
出版 2023Artigo
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Medicine
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