Search Results - Steiner, Robert D.

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    Cover Image

    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene by Zastrow, Diane B. (Author) , Baudet, Heather (Author) , Shen, Wei (Author) , Thomas, Amanda (Author) , Si, Yue (Author) , Weaver, Meredith A. (Author) , Lager, Angela M. (Author) , Liu, Jixia (Author) , Mangels, Rachel (Author) , Dwight, Selina S. (Author) , Wright, Matt W. (Author) , Dobrowolski, Steven F. (Author) , Eilbeck, Karen (Author) , Enns, Gregory M. (Author) , Feigenbaum, Annette (Author) , Lichter‐Konecki, Uta (Author) , Lyon, Elaine (Author) , Pasquali, Marzia (Author) , Watson, Michael (Author) , Blau, Nenad (Author) , Steiner, Robert D. (Author) , Craigen, William J. (Author) , Mao, Rong (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients by Liu, Wei (Author) , Xu, Libin (Author) , Lamberson, Connor R. (Author) , Merkens, Louise S. (Author) , Steiner, Robert D. (Author) , Elias, Ellen R. (Author) , Haas, Dorothea (Author) , Porter, Ned A. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

    Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa by Schiffmann, Raphael (Author) , Ries, Markus (Author) , Blankenship, Derek (Author) , Nicholls, Kathy (Author) , Mehta, Atul (Author) , Clarke, Joe T. R. (Author) , Steiner, Robert D. (Author) , Beck, Michael (Author) , Barshop, Bruce A. (Author) , Rhead, William (Author) , West, Michael (Author) , Martin, Rick (Author) , Amato, David (Author) , Nair, Nitin (Author) , Huertas, Pedro (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: