检索结果 - David B. Flannery
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Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) 由 Karen L. David, Robert G. Best, Leslie Manace Brenman, Lynn Wein Bush, Joshua L. Deignan, David B. Flannery, Jodi D. Hoffman, Ingrid A. Holm, David T. Miller, James O’Leary, Reed E. Pyeritz
出版 2018Artigo -
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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations 由 Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, Emma Elson, Joyce Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle Fox, John M. Graham, Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, Wolfram Henn, RaoulC.M. Hennekam, Lewis B. Holmes, H. Eugene Hoyme, Kathleen A. Leppig, Angela E. Lin, Patrick MacLeod, David K. Manchester, Carlo Marcelis, Laura Mazzanti, Emma McCann, Marie McDonald, Nancy J. Mendelsohn, John B. Moeschler, Billur Moghaddam, Giovanni Neri, Ruth Newbury‐Ecob, Roberta A Pagon, John A. Phillips, Laurie S. Sadler, Joan M. Stoler, David Tilstra, Catherine M. Walsh Vockley, Elaine H. Zackai, Touran M. Zadeh, Louise Brueton, Graeme Black, Leslie G. Biesecker
出版 2005Artigo -
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats 由 Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, J. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann Martin, Suneeta Madan‐Khetarpal, Jacqueline M. Hoover, Līvija Medne, Carsten G. Bönnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie Banks, David B. Flannery, Carolyn Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean P. Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer
出版 2011Artigo
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