Výsledky vyhledávání - Sarah T. South

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  1. 1
    Peroxisome Synthesis in the Absence of Preexisting Peroxisomes

    Peroxisome Synthesis in the Absence of Preexisting Peroxisomes Autor Sarah T. South, Stephen J. Gould

    Vydáno 1999
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  2. 2
    Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients

    Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients Autor Agatino Battaglia, Tiziana Filippi, Sarah T. South, John C. Carey

    Vydáno 2009
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  3. 3
    Cells expressing herpes simplex virus glycoprotein gC but not gB, gD, or gE are recognized by murine virus-specific cytotoxic T lymphocytes

    Cells expressing herpes simplex virus glycoprotein gC but not gB, gD, or gE are recognized by murine virus-specific cytotoxic T lymphocytes Autor K L Rosenthal, James R. Smiley, Sarah T. South, David C. Johnson

    Vydáno 1987
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  4. 4
    Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

    Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations Autor Sarah T. South, Heidi Whitby, Agatino Battaglia, John C. Carey, Arthur R. Brothman

    Vydáno 2007
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  5. 5
    Inhibitors of Copi and Copii Do Not Block <i>PEX3</i>-Mediated Peroxisome Synthesis

    Inhibitors of Copi and Copii Do Not Block <i>PEX3</i>-Mediated Peroxisome Synthesis Autor Sarah T. South, Katherine A. Sacksteder, Xiaoling Li, Yifei Liu, Stephen J. Gould

    Vydáno 2000
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  6. 6
    ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

    ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 Autor Sarah T. South, Charles Lee, Allen N. Lamb, Anne W. Higgins, Hutton M. Kearney

    Vydáno 2013
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  7. 7
    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants Autor Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero‐Rivera, Sarah T. South

    Vydáno 2011
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  8. 8
    Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis

    Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis Autor Katherine A. Sacksteder, Jacob M. Jones, Sarah T. South, Xiaoling Li, Yifei Liu, Stephen J. Gould

    Vydáno 2000
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  9. 9
    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal sett... Autor Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    Vydáno 2011
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  10. 10
    Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Ge... Autor Athena M. Cherry, Yassmine Akkari, Kimberly M. Barr, Hutton M. Kearney, Nancy C. Rose, Sarah T. South, James Tepperberg, Jeanne Meck

    Vydáno 2017
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  11. 11
    DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status

    DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status Autor Adam L. Cohen, Mariko Sato, Kenneth Aldape, Clinton C. Mason, Kristin Alfaro-Munoz, Lindsey Heathcock, Sarah T. South, Lisa M. Abegglen, Joshua D. Schiffman, Howard Colman

    Vydáno 2015
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  12. 12
    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome Autor Peter Hammond, Femke Hannes, Michael Suttie, Koenraad Devriendt, Joris Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steven Williams, Dominic McMullan, Sarah T. South, John C. Carey, Oliver Quarrell

    Vydáno 2011
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  13. 13
    Transcript Level Alterations Reflect Gene Dosage Effects Across Multiple Tissues in a Mouse Model of Down Syndrome

    Transcript Level Alterations Reflect Gene Dosage Effects Across Multiple Tissues in a Mouse Model of Down Syndrome Autor Pascal Kahlem, Marc Sultan, Ralf Herwig, Matthias Steinfath, Daniela Balzereit, Barbara Eppens, N. Saran, Mathew T. Pletcher, Sarah T. South, Gail Stetten, Hans Lehrach, Roger H. Reeves, Marie-Laure Yaspo

    Vydáno 2004
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  14. 14
    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome Autor Karen S. Ho, Sarah T. South, Amanda Lortz, Charles H. Hensel, Mallory R. Sdano, Rena Vanzo, Megan Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C. Carey, Agatino Battaglia

    Vydáno 2016
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  15. 15
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... Autor Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    Vydáno 2019
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  16. 16
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... Autor Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    Vydáno 2021
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  17. 17
    Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations

    Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations Autor Abner Louissaint, Kristian T. Schafernak, Julia T. Geyer, Alexandra E. Kovach, Mahmoud Ghandi, Dita Gratzinger, Christine G. Roth, Christian N. Paxton, Sunhee S. Kim, Chungdak Namgyal, Ryan D. Morin, Elizabeth A. Morgan, Donna Neuberg, Sarah T. South, Marian H. Harris, Robert P. Hasserjian, Ephraim P. Hochberg, Levi A. Garraway, Nancy L. Harris, David M. Weinstock

    Vydáno 2016
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  18. 18
    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Autor Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung

    Vydáno 2011
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  19. 19
    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency Autor Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi D. Fain, Reid Robison, Brian K. Dalley, Steven S. Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hákon Hákonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon

    Vydáno 2011
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  20. 20
    Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

    Loss of B Cells in Patients with Heterozygous Mutations in IKAROS Autor Hye Sun Kuehn, Bertrand Boisson, Charlotte Cunningham‐Rundles, Janine Reichenbach, Asbjørg Stray‐Pedersen, Erwin W. Gelfand, Patrick Maffucci, Keith R. Pierce, Jordan K. Abbott, Karl V. Voelkerding, Sarah T. South, Nancy H. Augustine, Jeana S. Bush, William K. Dolen, Betty B. Wray, Yuval Itan, Aurélie Cobat, Hanne Sørmo Sorte, Sundar Ganesan, Seraina Prader, Thomas B. Martins, Monica G. Lawrence, Jordan S. Orange, Katherine R. Calvo, Julie E. Niemela, Jean‐Laurent Casanova, Thomas A. Fleisher, Harry R. Hill, Attila Kumánovics, Mary Ellen Conley, Sergio D. Rosenzweig

    Vydáno 2016
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