检索结果 - Jorune Balciuniene
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Targeted transgene integration overcomes variability of position effects in zebrafish 由 Jennifer Roberts, Irene Miguel-Escalada, Katherine J. Slovik, Kathleen Theodora Walsh, Yavor Hadzhiev, Remo Sanges, Elia Stupka, Elizabeth K. Marsh, Jorune Balciuniene, Darius Balciunas, Ferenc Müller
出版 2014Artigo -
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16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome 由 Aiko Iwata‐Otsubo, Alyssa L. Rippert, Jorune Balciuniene, Sarah K. Fiordaliso, Robert Chen, Preetha Markose, Cara Skraban, Christopher Gray, Elaine H. Zackai, Holly Dubbs, Matthew A. Deardorff, Laura K. Conlin, Kosuke Izumi
出版 2025Artigo -
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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy 由 Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Kajia Cao, Holly Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan M. Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun
出版 2019Artigo -
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Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities 由 Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, Åke Borg, David Valle‐García, Lisa A. Schimmenti, Scott B. Selleck
出版 2007Artigo -
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Global increases in both common and rare copy number load associated with autism 由 Santhosh Girirajan, Rebecca L. Johnson, Flora Tassone, Jorune Balciuniene, Neerja Katiyar, Keolu Fox, Carl Baker, Abhinaya Srikanth, Kian Hui Yeoh, Su Jen Khoo, Therese B. Nauth, Robin Hansen, Marylyn D. Ritchie, Irva Hertz‐Picciotto, Evan E. Eichler, Isaac N. Pessah, Scott B. Selleck
出版 2013Artigo -
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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses 由 Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani
出版 2018Artigo -
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The phenotype of recurrent 10q22q23 deletions and duplications 由 Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries
出版 2011Artigo -
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior 由 Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu
出版 2021Artigo
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