檢索結果 - Margaret Drummond‐Borg
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Trends in Incidence Rates of Congenital Hypothyroidism Related to Select Demographic Factors: Data From the United States, California, Massachusetts, New York, and Texas 由 Cynthia F. Hinton, Katharine B. Harris, Lynette Borgfeld, Margaret Drummond‐Borg, Roger B. Eaton, Fred Lorey, Bradford L. Therrell, Jill Wallace, Kenneth A. Pass
出版 2010Artigo -
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism 由 Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche
出版 2016Artigo -
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Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations 由 Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish, Jill A. Rosenfeld, Florence Petit, Maria de Fátima Soares, Leslie Domenici Kulikowski, Adriana Di‐Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G. Seaby, Sarah Ennis, Rodney D. Gilbert, R. Tanner Hagelstrom, María Laura Cremona, Wenhui L. Li, Alka Malhotra, Anjana Chandrasekhar, Denise Perry, Ryan J. Taft, Julie McCarrier, Donald Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo J.S. Pereira, Marguerite Neerman‐Arbez, Vera Ayres Meloni, Margaret Drummond‐Borg, Maria Isabel Melaragno, Alexandre Reymond
出版 2017Artigo -
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders 由 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
出版 2021Artigo
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