Výsledky vyhledávání - Adam D. Heaps

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  1. 1
    A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

    A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder Autor Kevin A. Strauss, Sander Markx, Benjamin Georgi, Steven M. Paul, Robert N. Jinks, Toshinori Hoshi, Ann McDonald, Michael B. First, Wen‐Cheng Liu, Abigail R. Benkert, Adam D. Heaps, Yutao Tian, Aravinda Chakravarti, Maja Bućan, Erik G. Puffenberger

    Vydáno 2014
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    Artigo
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  2. 2
    Genomic diagnostics within a medically underserved population: efficacy and implications

    Genomic diagnostics within a medically underserved population: efficacy and implications Autor Kevin A. Strauss, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti, Katie B. Williams, Alejandra King, Cristopher V. Van Hout, Donna L. Robinson, Millie Young, Kavita Praveen, Adam D. Heaps, Mindy Kuebler, Aris Baras, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Robert N. Jinks, Ian Finnegan, Scott Mellis, Alan R. Shuldiner, Erik G. Puffenberger

    Vydáno 2017
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    Artigo
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  3. 3
    Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

    Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes Autor Kevin A. Strauss, Vincent J. Carson, Kyle Soltys, Millie Young, Lauren E. Bowser, Erik G. Puffenberger, Karlla W. Brigatti, Katie B. Williams, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora Taylor, Barbara Haas‐Givler, Stephanie A. Chopko, Jennifer Hailey, Emilie Muelly, Diana A. Shellmer, Zachary Radcliff, Ashlin Rodrigues, KaLynn K. Loeven, Adam D. Heaps, George Mazariegos, D. Holmes Morton

    Vydáno 2020
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    Artigo
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  4. 4
    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>

    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i> Autor Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple, Brian Harding, Peter B. Crino, Agnes B. Fogo, Olivia Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine McGlincy, Margaret M. Provencher, Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold E. Cross, Gaurav V. Harlalka, Matthew E. Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa M. Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua J. Zaritsky, Kenneth G. Campellone, D. Holmes Morton, Heng Wang, Andrew H. Crosby, Kevin A. Strauss

    Vydáno 2015
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