Showing 1 — 20 of 88
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  • Original Investigation December 01, 2013

    Claudia Gonzaga-Jauregui, PhD; Timothy Lotze, MD; Leila Jamal, ScM; Samantha Penney, MSc; Ian M. Campbell, BS; Davut Pehlivan, MD; Jill V. Hunter, MBBS; Suzanne L. Woodbury, MD; Gerald Raymond, MD; Adekunle M. Adesina, MD, PhD; Shalini N. Jhangiani, MSc; Jeffrey G. Reid, PhD; Donna M. Muzny, MSc; Eric Boerwinkle, PhD; James R. Lupski, MD, PhD, DSc; Richard A. Gibbs, PhD; Wojciech Wiszniewski, MD, PhD
    TOPICS: mutation, microcephaly, axonal neuropathy

    JAMA Neurol. 2013; 70(12):1491-1498. doi: 10.1001/jamaneurol.2013.4598

  • Original Contribution April 10, 2013

    Lia Crotti , MD, PhD; David J. Tester, BS; Wendy M. White, MD; Daniel C. Bartos, BS; Roberto Insolia, PhD; Alessandra Besana, PhD; Jennifer D. Kunic, BS; Melissa L. Will, BS; Ellyn J. Velasco, BS; Jennifer J. Bair, BS; Alice Ghidoni, BS; Irene Cetin, MD; Daniel L. Van Dyke, PhD; Myra J. Wick, MD, PhD; Brian Brost, MD; Brian P. Delisle, PhD; Fabio Facchinetti, MD; Alfred L. George, MD; Peter J. Schwartz, MD; Michael J. Ackerman, MD, PhD
    TOPICS: long qt syndrome, mutation, fetal death

    JAMA. 2013; 309(14):1473-1482. doi: 10.1001/jama.2013.3219

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