Risultati della ricerca - Kristin McDonald Gibson

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  1. 1
    Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

    Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing di Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth Hynes, Madhuri Hegde, Avni Santani, Matthew S. Lebo, Birgit Funke

    Pubblicazione 2016
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  2. 2
    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy di J. Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, H. Luque, Mark Screen, Kristin McDonald Gibson, Jeffrey M. Stajich, I. Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttilä, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael A. Hauser, Nicholas Katsanis, Bjarne Udd

    Pubblicazione 2012
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  3. 3
    Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

    Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy di Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Michael A. Hauser, Kristin McDonald Gibson, Allison E. Ashley‐Koch, Louis Saint‐Amant, Akhila Satish, Wilson W. Cui, Weibin Zhou, Shawn M. Sprague, Demetra S. Stamm, Cynthia M. Powell, Marcy C. Speer, Clara Franzini‐Armstrong, Hiromi Hirata, John Y. Kuwada

    Pubblicazione 2013
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  4. 4
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features di Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    Pubblicazione 2017
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