檢索結果 - Lisa G. Shaffer

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  1. 1
    A cytogeneticist's perspective on genomic microarrays

    A cytogeneticist's perspective on genomic microarrays 由 Lisa G. Shaffer

    出版 2004
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  2. 2
    American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

    American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation 由 Lisa G. Shaffer

    出版 2005
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  3. 3
    Disorders caused by chromosome abnormalities

    Disorders caused by chromosome abnormalities 由 Lisa G. Shaffer, Theisen

    出版 2010
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  4. 4
    Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics

    Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics 由 Bassem A. Bejjani, Lisa G. Shaffer

    出版 2006
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  5. 5
    Clinical Utility of Contemporary Molecular Cytogenetics

    Clinical Utility of Contemporary Molecular Cytogenetics 由 Bassem A. Bejjani, Lisa G. Shaffer

    出版 2008
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  6. 6
    Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition

    Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition 由 A. Simons, Lisa G. Shaffer, Ros Hastings

    出版 2013
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  7. 7
    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?

    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? 由 The‐Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer

    出版 2011
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  8. 8
    Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition

    Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition 由 Arthur R. Brothman, Diane L. Persons, Lisa G. Shaffer

    出版 2009
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  9. 9
    The Promise and Pitfalls of Telomere Region–Specific Probes

    The Promise and Pitfalls of Telomere Region–Specific Probes 由 Blake C. Ballif, Catherine D. Kashork, Lisa G. Shaffer

    出版 2000
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  10. 10
    Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes

    Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes 由 Sue Ann Berend, Juli Horwitz, Christopher McCaskill, Lisa G. Shaffer

    出版 2000
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  11. 11
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH 由 Nicholas J. Neill, Beth S. Torchia, Bassem A. Bejjani, Lisa G. Shaffer, Blake C. Ballif

    出版 2010
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  12. 12
    Estimates of penetrance for recurrent pathogenic copy-number variations

    Estimates of penetrance for recurrent pathogenic copy-number variations 由 Jill A. Rosenfeld, Bradley P. Coe, Evan E. Eichler, Howard Cuckle, Lisa G. Shaffer

    出版 2012
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  13. 13
    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature 由 Jonathan L A Callaway, Lisa G. Shaffer, Lyn S. Chitty, Jill A. Rosenfeld, John A. Crolla

    出版 2013
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  14. 14
    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome 由 Yuanqing Wu, José L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

    出版 2000
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  15. 15
    The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

    The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future 由 Lisa G. Shaffer, Bassem A. Bejjani, Beth S. Torchia, Susan J. Kirkpatrick, Justine Coppinger, Blake C. Ballif

    出版 2007
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  16. 16
    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy 由 Lisa G. Shaffer, Noelle Agan, Judith D. Goldberg, David H. Ledbetter, John Longshore, Suzanne B. Cassidy

    出版 2001
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  17. 17
    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report 由 Ryan N. Traylor, Zheng Fan, Beth Hudson, Jill A. Rosenfeld, Lisa G. Shaffer, Beth S. Torchia, Blake C. Ballif

    出版 2009
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  18. 18
    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications 由 Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

    出版 2009
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  19. 19
    Microarray analysis for constitutional cytogenetic abnormalities

    Microarray analysis for constitutional cytogenetic abnormalities 由 Lisa G. Shaffer, Arthur L. Beaudet, Arthur R. Brothman, Betsy Hirsch, Brynn Levy, Alastair J. Martin, James T. Mascarello, Kathleen W. Rao

    出版 2007
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  20. 20
    Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

    Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype 由 Linda Kleeman, Diana W. Bianchi, Lisa G. Shaffer, Emily A. Rorem, Janet M. Cowan, Sabrina Craigo, Hocine Tighiouart, Louise Wilkins‐Haug

    出版 2009
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