檢索結果 - Sandesh C. Sreenath Nagamani

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  1. 1
    Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond

    Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond 由 Ayelet Erez, Sandesh C. Sreenath Nagamani, Brendan Lee

    出版 2011
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  2. 2
    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 由 Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

    出版 2009
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  3. 3
    Phenotypic manifestations of copy number variation in chromosome 16p13.11

    Phenotypic manifestations of copy number variation in chromosome 16p13.11 由 Sandesh C. Sreenath Nagamani, Ayelet Erez, Patricia I. Bader, Seema R. Lalani, Daryl A. Scott, Fernando Scaglia, Sharon E. Plon, Chun-Hui Tsai, Tyler Reimschisel, Elizabeth Roeder, Amy D. Malphrus, Patricia A. Eng, Patricia Hixson, Sung-Hae L. Kang, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    出版 2010
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    Artigo
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  4. 4
    Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

    Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications 由 Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Weimin Bi, Claudia M.B. Carvalho, Alexandra D. Simmons, Joanna Wiszniewska, Ping Fang, Patricia A. Eng, M. Lance Cooper, V. Reid Sutton, Elizabeth Roeder, John B. Bodensteiner, Mauricio R. Delgado, Siddharth K. Prakash, John W. Belmont, Paweł Stankiewicz, Jonathan S. Berg, Marwan Shinawi, Ankita Patel, Sau Wai Cheung, James R. Lupski

    出版 2011
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  5. 5
    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 由 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

    出版 2009
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  6. 6
    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate 由 George A. Díaz, Lauren Krivitzky, Masoud Mokhtarani, William J. Rhead, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Uta Lichter‐Konecki, Dennis Bartholomew, Cary O. Harding, Stephen Cederbaum, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, Mark Korson, David Kronn, Roberto Zori, Lawrence Merritt, Sandesh C. Sreenath Nagamani, Joseph Mauney, Cynthia LeMons, Klara Dickinson, Tristen Moors, Dion F. Coakley, Bruce F. Scharschmidt, Brendan Lee

    出版 2012
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  7. 7
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications 由 Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries

    出版 2011
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  8. 8
    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

    Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements 由 Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Shweta U. Dhar, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie Withers, Carlos A. Bacino, Luis Daniel Campos-Acevedo, Mauricio R. Delgado, Debra Freedenberg, Adolfo D. Garnica, Theresa A. Grebe, Dolores Hernández-Almaguer, LaDonna Immken, Seema R. Lalani, Scott D. McLean, Hope Northrup, Fernando Scaglia, Lane Strathearn, Pamela Trapane, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, P. J. Hastings, Paweł Stankiewicz, James R. Lupski, Weimin Bi

    出版 2011
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