Výsledky vyhledávání - Jennifer R. German

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  1. 1
    Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

    Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes Autor Soo‐Jeong Kim, Jennifer Miller, Paul J. Kuipers, Jennifer R. German, Arthur L. Beaudet, Trilochan Sahoo, Daniel J. Driscoll

    Vydáno 2011
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  2. 2
    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

    Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster Autor Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet

    Vydáno 2008
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  3. 3
    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations Autor Trilochan Sahoo, Carlos A. Bacino, Jennifer R. German, Chad A. Shaw, Lynne M. Bird, Virginia Kimonis, Irinia Anselm, Susan E. Waisbren, Arthur L. Beaudet, Sarika U. Peters

    Vydáno 2007
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  4. 4
    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes Autor Marwan Shinawi, Christian P. Schaaf, Samarth Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan C. Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna Immken, Gayle Patel, Jennifer R. German, Arthur L. Beaudet, Paweł Stankiewicz

    Vydáno 2009
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  5. 5
    Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

    Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE Autor Patrícia B. S. Celestino-Soper, Chad A. Shaw, Stephan Sanders, Jian Li, Michael T. Murtha, A. Gulhan Ercan‐Sencicek, Lea K. Davis, Susanne Thomson, Tomasz Gambin, A. Craig Chinault, Zhishuo Ou, Jennifer R. German, Aleksandar Milosavljevic, James S. Sutcliffe, Edwin H. Cook, Paweł Stankiewicz, Matthew W. State, Arthur L. Beaudet

    Vydáno 2011
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  6. 6
    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH Autor Shweta U. Dhar, Daniela del Gaudio, Jennifer R. German, Sarika U. Peters, Zhishu Ou, Patricia I. Bader, Jonathan S. Berg, Maria Blazo, Chester Brown, Brett H. Graham, Theresa A. Grebe, Seema R. Lalani, Mira Irons, Steven Sparagana, Melissa Williams, John A. Phillips, Arthur L. Beaudet, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung, Trilochan Sahoo

    Vydáno 2010
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  7. 7
    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders Autor Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Mohammad M. Qasaymeh, Lorraine Potocki, Sandesh C. Sreenath Nagamani, Luis M. Franco, Amy D. Malphrus, G W Bottenfield, J. Edward Spence, Stephen Amato, Justine Rousseau, Billur Moghaddam, Cindy Skinner, Steven A. Skinner, Saunder Bernes, Nicole L. Armstrong, Marwan Shinawi, Paweł Stankiewicz, Ankita Patel, SW Cheung, James R. Lupski, Arthur L. Beaudet, Trilochan Sahoo

    Vydáno 2009
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  8. 8
    A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

    A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Autor Patrícia B. S. Celestino-Soper, Sara Violante, Emily L. Crawford, Rui Luo, Anath C. Lionel, Elsa Delaby, Guiqing Cai, Bekim Sadiković, Kwanghyuk Lee, Charlene Lo, Kun Gao, Richard Person, Timothy J. M. Moss, Jennifer R. German, Ni Huang, Marwan Shinawi, Diane Treadwell‐Deering, Peter Szatmari, Wendy Roberts, Bridget A. Fernandez, Richard J. Schroer, Roger E. Stevenson, Joseph D. Buxbaum, Catalina Betancur, Stephen W. Scherer, Stephan Sanders, Daniel H. Geschwind, James S. Sutcliffe, Matthew E. Hurles, Ronald J. A. Wanders, Chad A. Shaw, Suzanne M. Leal, Edwin H. Cook, Robin P. Goin‐Kochel, Frédéric M. Vaz, Arthur L. Beaudet

    Vydáno 2012
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