Torthaí cuardaigh - Leslie G. Biesecker

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  1. 1
    What you can learn from one gene: GLI3

    What you can learn from one gene: GLI3 de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2006
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  2. 2
    Hypothesis-generating research and predictive medicine

    Hypothesis-generating research and predictive medicine de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2013
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  3. 3
    Exome sequencing makes medical genomics a reality

    Exome sequencing makes medical genomics a reality de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2009
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  4. 4
    Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

    Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2012
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  5. 5
    The challenges of Proteus syndrome: diagnosis and management

    The challenges of Proteus syndrome: diagnosis and management de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2006
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  6. 6
    The Greig cephalopolysyndactyly syndrome

    The Greig cephalopolysyndactyly syndrome de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2008
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  7. 7
    Polydactyly: How many disorders and how many genes? 2010 update

    Polydactyly: How many disorders and how many genes? 2010 update de réir Leslie G. Biesecker

    Foilsithe / Cruthaithe 2011
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  8. 8
    Pallister-Hall syndrome.

    Pallister-Hall syndrome. de réir Leslie G. Biesecker, John M. Graham

    Foilsithe / Cruthaithe 1996
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  9. 9
    Databases of genomic variation and phenotypes: existing resources and future needs

    Databases of genomic variation and phenotypes: existing resources and future needs de réir Jennifer J. Johnston, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2013
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  10. 10
    The ACMG/AMP reputable source criteria for the interpretation of sequence variants

    The ACMG/AMP reputable source criteria for the interpretation of sequence variants de réir Leslie G. Biesecker, Steven M. Harrison

    Foilsithe / Cruthaithe 2018
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  11. 11
    Next-generation sequencing demands next-generation phenotyping

    Next-generation sequencing demands next-generation phenotyping de réir Raoul C. M. Hennekam, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2012
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  12. 12
    Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

    Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants de réir T. Beck, James C. Mullikin, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2016
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  13. 13
    Exome sequencing: the expert view

    Exome sequencing: the expert view de réir Leslie G. Biesecker, Kevin V. Shianna, Jim Mullikin

    Foilsithe / Cruthaithe 2011
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  14. 14
    Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases

    Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases de réir Joyce Turner, M. Michael Cohen, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2004
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  15. 15
    Reporting Genomic Sequencing Results to Ordering Clinicians

    Reporting Genomic Sequencing Results to Ordering Clinicians de réir Robert C. Green, James R. Lupski, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2013
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  16. 16
    Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

    Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data de réir Mauricio De Castro, Jennifer J. Johnston, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2015
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  17. 17
    Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

    Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines de réir Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

    Foilsithe / Cruthaithe 2019
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  18. 18
    Assessing the reproducibility of exome copy number variations predictions

    Assessing the reproducibility of exome copy number variations predictions de réir Celine Hong, Larry N. Singh, James C. Mullikin, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2016
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  19. 19
    <i>GLI</i> <i>3</i> mutations in human disorders mimic <i>Drosophila</i> Cubitus interruptus protein functions and localization

    <i>GLI</i> <i>3</i> mutations in human disorders mimic <i>Drosophila</i> Cubitus interruptus protein functions and localization de réir Sang Hoon Shin, Priit Kogerman, Erika Lindström, Rune Toftgård, Leslie G. Biesecker

    Foilsithe / Cruthaithe 1999
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  20. 20
    Next-generation sequencing in the clinic: are we ready?

    Next-generation sequencing in the clinic: are we ready? de réir Leslie G. Biesecker, Wylie Burke, Isaac S. Kohane, Sharon E. Plon, Ron Zimmern

    Foilsithe / Cruthaithe 2012
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