Resultados de procura - Thomas C. Markello

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  1. 1
    Improved Renal Function in Children with Cystinosis Treated with Cysteamine

    Improved Renal Function in Children with Cystinosis Treated with Cysteamine por Thomas C. Markello, Isa Bernardini, William A. Gahl

    Publicado 1993
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  2. 2
    Swallowing Dysfunction in Nephropathic Cystinosis

    Swallowing Dysfunction in Nephropathic Cystinosis por Barbara C. Sonies, Evan F. Ekman, Hans C. Andersson, Megan Adamson, Stephen G. Kaler, Thomas C. Markello, William A. Gahl

    Publicado 1990
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  3. 3
    Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

    Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors por Bobby G. Ng, Lynne A. Wolfe, Mie Ichikawa, Thomas C. Markello, Miao He, Cynthia J. Tifft, W. A. Gahl, Hudson H. Freeze

    Publicado 2015
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  4. 4
    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine por William A. Gahl, John J. Mulvihill, Camilo Toro, Thomas C. Markello, Anastasia L. Wise, Rachel Ramoni, David R. Adams, Cynthia J. Tifft

    Publicado 2016
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  5. 5
    Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis

    Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis por Kevin O’Brien, James Troendle, Bernadette R. Gochuico, Thomas C. Markello, Jose Salas, Hilda Cardona, Jianhua Yao, Isa Bernardini, Richard A. Hess, William A. Gahl

    Publicado 2011
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  6. 6
    Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

    Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1 por Farshid N. Rouhani, Mark Brantly, Thomas C. Markello, Amanda Helip‐Wooley, Kevin O’Brien, Richard A. Hess, Marjan Huizing, William A. Gahl, Bernadette R. Gochuico

    Publicado 2009
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  7. 7
    Ribosomal protein gene deletions in Diamond-Blackfan anemia

    Ribosomal protein gene deletions in Diamond-Blackfan anemia por Jason E. Farrar, Adrianna Vlachos, Eva Atsidaftos, Hannah Carlson-Donohoe, Thomas C. Markello, R.J. Arceci, Steven R. Ellis, Jeffrey M. Lipton, David M. Bodine

    Publicado 2011
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  8. 8
    A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1

    A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1 por Eric Delpire, Lynne A. Wolfe, Bianca Flores, Rainelli Koumangoye, Cara C. Schornak, Salma Omer, Barbara N. Pusey, Christopher Lau, Thomas C. Markello, David R. Adams

    Publicado 2016
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  9. 9
    Detecting false-positive signals in exome sequencing

    Detecting false-positive signals in exome sequencing por Karin V. Fuentes Fajardo, David R. Adams, Christopher E. Mason, Murat Sincan, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, William A. Gahl, Thomas C. Markello

    Publicado 2012
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  10. 10
    Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum

    Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum por Thomas C. Markello, Laura K. Pak, Cynthia St. Hilaire, Heidi Dorward, Shira G. Ziegler, Marcus Y. Chen, Krishna Chaganti, Robert L. Nussbaum, Manfred Boehm, William A. Gahl

    Publicado 2011
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  11. 11
    Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

    Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features por Angelo M. Taveira‐DaSilva, Thomas C. Markello, David E. Kleiner, Amanda M. Jones, Catherine Groden, Ellen F. Macnamara, Tadafumi Yokoyama, William A. Gahl, Bernadette R. Gochuico, Joel Moss

    Publicado 2018
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  12. 12
    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells por Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, Jiro Kato, Hiroko Ishiwata-Endo, Linda A. Stevens, Atsushi Kasamatsu, Lynne A. Wolfe, Camilo Toro, David R. Adams, Thomas C. Markello, William A. Gahl, Joel Moss

    Publicado 2019
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  13. 13
    Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

    Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia por Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, James A. Curry, Dawn Maynard, Hannah Carlson-Donohoe, Carla Ciccone, NISC Comparative Sequencing Program, Thomas C. Markello, Meral Gunay‐Aygun, Marjan Huizing, William A. Gahl

    Publicado 2011
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  14. 14
    Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

    Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy por Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis

    Publicado 2014
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  15. 15
    Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

    Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration por Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, James C. Mullikin, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, NISC Comparative Sequencing Program

    Publicado 2011
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  16. 16
    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience por Lauren Lawrence, Murat Sincan, Thomas C. Markello, David R. Adams, Fred A. Gill, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Colleen E. Wahl, Lynne A. Wolfe, William A. Gahl, Cornelius F. Boerkoel

    Publicado 2014
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  17. 17
    <i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

    <i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine por Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh, Karin Fuentes‐Fajardo, David R. Adams, Thomas C. Markello, Gretchen Golas, Dimitre R. Simeonov, Conisha Holloman, Anel Tankovic, Manish Karamchandani, John M. Schreiber, James C. Mullikin, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, Stephen F. Traynelis, William A. Gahl

    Publicado 2014
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  18. 18
    <i>NT5E</i>Mutations and Arterial Calcifications

    <i>NT5E</i>Mutations and Arterial Calcifications por Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, Alfredo Brusco, Catherine Groden, Fred A. Gill, Hannah Carlson-Donohoe, Robert J. Lederman, Marcus Y. Chen, Dan Yang, Michael Siegenthaler, Carlo Arduino, Cecilia Mancini, Bernard Freudenthal, Horia Stanescu, Anselm A. Zdebik, R.K. Chaganti, Robert L. Nussbaum, Robert Kleta, William A. Gahl, Manfred Boehm

    Publicado 2011
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  19. 19
    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 por Thomas C. Markello, Dong Chen, Justin Kwan, Iren Horkayne‐Szakaly, Alan Morrison, Olga Šimáková, Irina Marić, Jay N. Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William P. Bone, Sanjay Chainani, Elizabeth Lee, Amanda E. Links, Cornelius F. Boerkoel, Roxanne Fischer, Camilo Toro, James G. White, William A. Gahl, Meral Gunay‐Aygun

    Publicado 2014
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  20. 20
    Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

    Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases por Tyler Mark Pierson, David R. Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony D. Sandler, Karin Fuentes Fajardo, Thomas C. Markello, Cynthia J. Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

    Publicado 2011
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