检索结果 - Robert D. Steiner

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  1. 1
    Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

    Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition 由 Donald Basel, Robert D. Steiner

    出版 2009
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  2. 2
    Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

    Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX) 由 Gerald Salen, Robert D. Steiner

    出版 2017
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  3. 3
    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis 由 Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson

    出版 2023
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  4. 4
    Bisphosphonate therapy for osteogenesis imperfecta

    Bisphosphonate therapy for osteogenesis imperfecta 由 Kerry Dwan, Carrie A. Phillipi, Robert D. Steiner, Donald Basel

    出版 2016
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  5. 5
    Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

    Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders 由 Melissa Svoboda, Jill M. Christie, Yasemen Eroğlu, Kurt A. Freeman, Robert D. Steiner

    出版 2012
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  6. 6
    Smith–Lemli–Opitz syndrome

    Smith–Lemli–Opitz syndrome 由 Andrea E. DeBarber, Yasemen Eroğlu, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner

    出版 2011
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  7. 7
    Correlates of language impairment in children with galactosaemia

    Correlates of language impairment in children with galactosaemia 由 Nancy L. Potter, Jordan Lazarus, Joyce M. Johnson, Robert D. Steiner, Lawrence D. Shriberg

    出版 2008
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  8. 8
    Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria

    Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria 由 Anna Hood, Dorothy K. Grange, Shawn E. Christ, Robert D. Steiner, Desirée A. White

    出版 2014
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  9. 9
    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities

    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities 由 Amy Kritzer, Rana Dutta, Tiziano Pramparo, Jolan Terner-Rosenthal, Pamela Vig, Robert D. Steiner

    出版 2025
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  10. 10
    Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder

    Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder 由 Meghan Miller, Erica D. Musser, Gregory S. Young, Brent F. Olson, Robert D. Steiner, Joel T. Nigg

    出版 2018
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  11. 11
    Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study

    Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study 由 Timothy M. Cox, Dominick Amato, Carla E. M. Hollak, Cecile Paquet Luzy, Mariabeth Silkey, R. Giorgino, Robert D. Steiner

    出版 2012
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  12. 12
    Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

    Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects 由 Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen

    出版 2003
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  13. 13
    Ezetimibe Reduces Plant Sterol Accumulation and Favorably Increases Platelet Count in Sitosterolemia

    Ezetimibe Reduces Plant Sterol Accumulation and Favorably Increases Platelet Count in Sitosterolemia 由 Rgia A. Othman, Semone B. Myrie, David Mymin, Louise S. Merkens, Jean‐Baptiste Roullet, Robert D. Steiner, Peter J.H. Jones

    出版 2014
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  14. 14
    Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

    Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes 由 Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles R. Tyler, Penelope E. Bonnen

    出版 2015
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  15. 15
    A useful multi-analyte blood test for cerebrotendinous xanthomatosis

    A useful multi-analyte blood test for cerebrotendinous xanthomatosis 由 Andrea E. DeBarber, Jenny Luo, Roberto Giugliani, Carolina Fischinger Moura de Souza, John Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner

    出版 2014
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  16. 16
    Shared familial transmission of autism spectrum and attention‐deficit/hyperactivity disorders

    Shared familial transmission of autism spectrum and attention‐deficit/hyperactivity disorders 由 Erica D. Musser, Elizabeth Hawkey, Svetlana S. Kachan‐Liu, Paul Lees, Jean‐Baptiste Roullet, Katrina A.B. Goddard, Robert D. Steiner, Joel T. Nigg

    出版 2014
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  17. 17
    Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications

    Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications 由 W Feero, Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin, Bruce R. Korf, Annette Flanagin, Kirsten Bibbins‐Domingo

    出版 2024
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  18. 18
    Apolipoprotein E–low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner

    Apolipoprotein E–low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner 由 Lance A. Johnson, Reid H. J. Olsen, Louise S. Merkens, Andrea E. DeBarber, Robert D. Steiner, Patrick M. Sullivan, Nobuyo Maeda, Jacob Raber

    出版 2014
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  19. 19
    Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

    Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome 由 Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile, Don S. Lin, Leesa M. Linck, William E. Connor, Robert D. Steiner, Forbes D. Porter

    出版 1998
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  20. 20
    Agalsidase Alfa and Kidney Dysfunction in Fabry Disease

    Agalsidase Alfa and Kidney Dysfunction in Fabry Disease 由 Michael L. West, Kathy Nicholls, Atul Mehta, Joe T.R. Clarke, Robert D. Steiner, Michael Beck, Bruce A. Barshop, William J. Rhead, Robert Mensah, Markus Ries, Raphael Schiffmann

    出版 2009
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