Showing 1 - 5 results of 5 for search 'Richard A Gibbs', query time: 0.02s Refine Results
  1. 1
    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders by Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir

    Published 2024
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  2. 2
    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders by Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir

    Published 2024
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  3. 3
    Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence.

    Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. by Darina Cejková, Marie Zobaníková, Lei Chen, Petra Pospíšilová, Michal Strouhal, Xiang Qin, Lenka Mikalová, Steven J Norris, Donna M Muzny, Richard A Gibbs, Lucinda L Fulton, Erica Sodergren, George M Weinstock, David Smajs

    Published 2012
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  4. 4
    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature by Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli

    Published 2021
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  5. 5
    Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

    Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk by Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck

    Published 2024
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