Resultados da busca - Sau Wai Cheung

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  1. 1
    Accurate Description of DNA-Based Noninvasive Prenatal Screening

    Accurate Description of DNA-Based Noninvasive Prenatal Screening por Sau Wai Cheung, Ankita Patel, Tak Yeung Leung

    Publicado em 2015
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  2. 2
    A 1q42 deletion involving <i>DISC1</i>, <i>DISC2</i>, and <i>TSNAX</i> in an autism spectrum disorder

    A 1q42 deletion involving <i>DISC1</i>, <i>DISC2</i>, and <i>TSNAX</i> in an autism spectrum disorder por Jaime M. Williams, T. Beck, David Pearson, Monica B. Proud, Sau Wai Cheung, Daryl A. Scott

    Publicado em 2009
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  3. 3
    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease por Jennifer A. Lee, Ken Inoue, Sau Wai Cheung, Chad A. Shaw, Paweł Stankiewicz, James R. Lupski

    Publicado em 2006
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  4. 4
    Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set

    Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set por Anja Weise, Kristin Mrasek, Ina Fickelscher, Uwe Claussen, Sau Wai Cheung, Wei Cai, Thomas Liehr, Nadezda Kosyakova

    Publicado em 2008
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  5. 5
    Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

    Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome por Svetlana A. Yatsenko, Ellen K. Brundage, Erin K. Roney, Sau Wai Cheung, A. Craig Chinault, James R. Lupski

    Publicado em 2009
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  6. 6
    OEIS complex associated with chromosome 1p36 deletion: A case report and review

    OEIS complex associated with chromosome 1p36 deletion: A case report and review por Ayman W. El‐Hattab, Josh Skorupski, Michael H. Hsieh, Amy M. Breman, Ankita Patel, Sau Wai Cheung, William J. Craigen

    Publicado em 2010
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  7. 7
    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review por Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis, Joseph A. Church, Ankita Patel, Sau Wai Cheung

    Publicado em 2015
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  8. 8
    Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

    Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q por Marwan Shinawi, Ayelet Erez, Deborah L. Shardy, Brendan Lee, Rizwan Naeem, George Weissenberger, A. Craig Chinault, Sau Wai Cheung, Sharon E. Plon

    Publicado em 2008
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  9. 9
    Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action

    Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action por Mounia Tannour‐Louet, Shuo Han, Jean‐François Louet, Bin Zhang, Karina Romero, Josephine Addai, Ayşegül A. Şahin, Sau Wai Cheung, Dolores J. Lamb

    Publicado em 2014
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  10. 10
    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 por Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet

    Publicado em 2008
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  11. 11
    Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

    Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses por Zhishuo Ou, Sung‐Hae Kang, Chad A. Shaw, Condie E. Carmack, Lisa D. White, Ankita Patel, Arthur L. Beaudet, Sau Wai Cheung, A. Craig Chinault

    Publicado em 2008
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  12. 12
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders por Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    Publicado em 2012
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  13. 13
    Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

    Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development por Mounia Tannour‐Louet, Shuo Han, Sean T. Corbett, Jean‐François Louet, Svetlana A. Yatsenko, Lindsay Meyers, Chad A. Shaw, Sung‐Hae Kang, Sau Wai Cheung, Dolores J. Lamb

    Publicado em 2010
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  14. 14
    Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

    Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men por Alexander N. Yatsenko, Svetlana A. Yatsenko, John Weedin, Amy E. Lawrence, Ankita Patel, Sandra Peacock, Martin M. Matzuk, Dolores J. Lamb, Sau Wai Cheung, Larry I. Lipshultz

    Publicado em 2010
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  15. 15
    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

    Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH por Anne Chun-Hui Tsai, Cherilyn J Dossett, Carol S. Walton, Andrea E Cramer, Patti A Eng, Beata Nowakowska, Amber N. Pursley, Paweł Stankiewicz, Joanna Wiszniewska, Sau Wai Cheung

    Publicado em 2010
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  16. 16
    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

    Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions por Ayman W. El‐Hattab, Ping Fang, Weihong Jin, J. R. Hughes, James B. Gibson, Gargi Patel, Dorothy K. Grange, Linda Manwaring, Ankita Patel, P. Stankiewicz, Sau Wai Cheung

    Publicado em 2011
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  17. 17
    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia por Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung‐Hae Kang

    Publicado em 2009
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  18. 18
    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? por Weimin Bi, Caroline Borgan, Amber N. Pursley, Patricia Hixson, Chad A. Shaw, Carlos A. Bacino, Seema R. Lalani, Ankita Patel, Paweł Stankiewicz, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    Publicado em 2012
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  19. 19
    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree por Claudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna Kołodziejska, Rachel Miller, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, Christian P. Schaaf

    Publicado em 2014
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  20. 20
    Development and validation of a CGH microarray for clinical cytogenetic diagnosis

    Development and validation of a CGH microarray for clinical cytogenetic diagnosis por Sau Wai Cheung, Chad A. Shaw, Wei Yu, Jiangzham Li, Zhishuo Ou, Ankita Patel, Svetlana A. Yatsenko, M. Lance Cooper, Patti Furman, P Stankiewicz, James R. Lupski, A. Craig Chinault, Arthur L. Beaudet

    Publicado em 2005
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