Rezultati - D. Holmes Morton

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  1. 1
    Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency

    Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency od Kevin A. Strauss, Jelena Lazović, Max Wintermark, D. Holmes Morton

    Izdano 2007
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  2. 2
    Zoster in Normal Children After Varicella Vaccine

    Zoster in Normal Children After Varicella Vaccine od Stanley A. Plotkin, Stuart E. Starr, Kathryn M. Connor, D. Holmes Morton

    Izdano 1989
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  3. 3
    Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2‐ketoglutaric aciduria

    Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2‐ketoglutaric aciduria od Richard I. Kelley, Donna L. Robinson, Erik G. Puffenberger, Kevin A. Strauss, D. Holmes Morton

    Izdano 2002
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  4. 4
    Erythrocyte pyruvate kinase deficiency: 2015 status report

    Erythrocyte pyruvate kinase deficiency: 2015 status report od Rachael F. Grace, Alberto Zanella, Ellis J. Neufeld, D. Holmes Morton, Stefan Eber, Hassan M. Yaish, Bertil Glader

    Izdano 2015
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  5. 5
    Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

    Biochemical correlates of neuropsychiatric illness in maple syrup urine disease od Emilie Muelly, Gregory J. Moore, Scott C. Bunce, Julie Mack, Don C. Bigler, D. Holmes Morton, Kevin A. Strauss

    Izdano 2013
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  6. 6
    Truncation by Glu180 Nonsense Mutation Results in Complete Loss of Slow Skeletal Muscle Troponin T in a Lethal Nemaline Myopathy

    Truncation by Glu180 Nonsense Mutation Results in Complete Loss of Slow Skeletal Muscle Troponin T in a Lethal Nemaline Myopathy od Jian‐Ping Jin, Marco Brotto, M. Moazzem Hossain, Qi-Quan Huang, Leticia Brotto, Thomas M. Nosek, D. Holmes Morton, Thomas O. Crawford

    Izdano 2003
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  7. 7
    Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

    Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2 od Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman, Steven M. Gottlieb, Seth Dobrin, Jennifer M. Parod, Dietrich A. Stephan, D. Holmes Morton

    Izdano 2006
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  8. 8
    Classical maple syrup urine disease and brain development: Principles of management and formula design

    Classical maple syrup urine disease and brain development: Principles of management and formula design od Kevin A. Strauss, Bridget Wardley, Donna L. Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana Shelmer, Ann B. Moser, D. Holmes Morton

    Izdano 2009
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  9. 9
    Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

    Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience od George Mazariegos, D. Holmes Morton, Rakesh Sindhi, Kyle Soltys, Navdeep Nayyar, Geoffrey Bond, Diana A. Shellmer, Benjamin L. Shneider, Jerry Vockley, Kevin A. Strauss

    Izdano 2011
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  10. 10
    A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

    A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 od Jennifer J. Johnston, Richard I. Kelley, Thomas O. Crawford, D. Holmes Morton, Richa Agarwala, Thorsten Koch, Alejandro A. Schäffer, Clair A. Francomano, Leslie G. Biesecker

    Izdano 2000
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  11. 11
    Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

    Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series od Diana A. Shellmer, Annette DeVito Dabbs, Mary Amanda Dew, Robert B. Noll, Heidi M. Feldman, Kevin A. Strauss, D. Holmes Morton, Jerry Vockley, George Mazariegos

    Izdano 2010
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  12. 12
    Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

    Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx od Kevin A. Strauss, Joan Brumbaugh, Alana Duffy, Bridget Wardley, Donna L. Robinson, Christine Hendrickson, Silvia Tortorelli, Ann B. Moser, Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton

    Izdano 2011
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  13. 13
    Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

    Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease od Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres‐Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe Chikwava, Oscar W. Cummings, D. Holmes Morton, Erik G. Puffenberger

    Izdano 2010
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  14. 14
    Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

    Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease od Kevin A. Strauss, George Mazariegos, Rakesh Sindhi, R Squires, David N. Finegold, Jerry Vockley, Donna L. Robinson, C. Hendrickson, M. A. Virji, Lorna Cropcho, Erik G. Puffenberger, William McGhee, Lynn Seward, D. Holmes Morton

    Izdano 2006
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  15. 15
    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 od Erik G. Puffenberger, Kevin A. Strauss, Keri Ramsey, David W. Craig, Dietrich Stephan, Donna L. Robinson, C. Hendrickson, Scott Gottlieb, David A. Ramsay, Victoria Mok Siu, Gregory G. Heuer, Peter B. Crino, D. Holmes Morton

    Izdano 2007
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  16. 16
    A homozygous missense mutation in<i>HERC2</i>associated with global developmental delay and autism spectrum disorder

    A homozygous missense mutation in<i>HERC2</i>associated with global developmental delay and autism spectrum disorder od Erik G. Puffenberger, Robert N. Jinks, Heng Wang, Baozhong Xin, Christopher J. Fiorentini, Eric A. Sherman, Dominick Degrazio, Calvin B. Shaw, Carrie Sougnez, Kristian Cibulskis, Stacey Gabriel, Richard I. Kelley, D. Holmes Morton, Kevin A. Strauss

    Izdano 2012
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  17. 17
    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup od Kevin A. Strauss, Lauren DuBiner, Mariella Simon, Michael V. Zaragoza, Partho P. Sengupta, Peng Li, Navneet Narula, Sandra Dreike, Julia Platt, Vincent Procaccio, Xilma R. Ortiz‐González, Erik G. Puffenberger, Richard I. Kelley, D. Holmes Morton, Jagat Narula, Douglas C. Wallace

    Izdano 2013
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  18. 18
    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

    The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism od M. Esther Gallardo, Lourdes R. Desviat, José Manuel Rodríguez Rodríguez, Jorge Esparza-Gordillo, Celia Pérez‐Cerdá, Belén Pérez, Pilar Rodríguez‐Pombo, Olga Criado‐García, Raúl Sanz, D. Holmes Morton, K. Michael Gibson, Thuy Le, Antònia Ribes, Santiago Rodrı́guez de Córdoba, Magdalena Ugarte, Miguel Á. Peñalva

    Izdano 2001
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  19. 19
    Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of <i>TSPYL</i> loss of function

    Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of <i>TSPYL</i> loss of function od Erik G. Puffenberger, Diane Hu‐Lince, Jennifer M. Parod, David W. Craig, Seth Dobrin, Andrew R. Conway, Elizabeth A. Donarum, Kevin A. Strauss, Travis Dunckley, Javier F. Cárdenas, Kara Melmed, Courtney Wright, Winnie S. Liang, Phillip Stafford, Charles R. Flynn, D. Holmes Morton, Dietrich Stephan

    Izdano 2004
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  20. 20
    Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

    Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades od Kevin A. Strauss, Katie B. Williams, Vincent J. Carson, Laura Poskitt, Lauren E. Bowser, Millie Young, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora Taylor, Barbara Haas‐Givler, Jennifer Hailey, Stephanie A. Chopko, Erik G. Puffenberger, Karlla W. Brigatti, Freeman Miller, D. Holmes Morton

    Izdano 2020
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