Bilaketaren emaitzak - Laura M. McDonell

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  1. 1
    Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

    Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin nork Laura M. McDonell, Kristin D. Kernohan, Kym M. Boycott, Sarah L. Sawyer

    Argitaratua 2015
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  2. 2
    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis nork James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

    Argitaratua 2016
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  3. 3
    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome nork Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Deborah Morris‐Rosendahl, Tilman Polster, Gyula Acsádi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Albert David, Christopher D. Smyser, Alex R. Paciorkowski, Marcia Willing, John Woulfe, Soma Das, Chandree L. Beaulieu, Janet Marcadier, Michael T. Geraghty, Brendan J. Frey, Jacek Majewski, Dennis E. Bulman, William B. Dobyns, Mark O’Driscoll, Kym M. Boycott

    Argitaratua 2013
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  4. 4
    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures nork Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun‐An Chen, Christian P. Schaaf, Jill A. Rosenfeld, Jessica A. Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P. Kirk, Paweł Stankiewicz, Amy M. Breman, Arran McBride, Tejaswi Kandula, Holly Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith‐Rae Dias, Megan T. Cho, Lindsay B. Henderson, Berivan Baskin, Paula Morris, Tao Jiang, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M. Boycott, J. Lloyd Holder, Huda Y. Zoghbi

    Argitaratua 2018
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