Rezultati - 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 od Leslie G. Biesecker

    Izdano 2006
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  2. 2
    Hypothesis-generating research and predictive medicine

    Hypothesis-generating research and predictive medicine od Leslie G. Biesecker

    Izdano 2013
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  3. 3
    Exome sequencing makes medical genomics a reality

    Exome sequencing makes medical genomics a reality od Leslie G. Biesecker

    Izdano 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 od Leslie G. Biesecker

    Izdano 2012
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  5. 5
    The challenges of Proteus syndrome: diagnosis and management

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

    Izdano 2006
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  6. 6
    The Greig cephalopolysyndactyly syndrome

    The Greig cephalopolysyndactyly syndrome od Leslie G. Biesecker

    Izdano 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 od Leslie G. Biesecker

    Izdano 2011
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  8. 8
    Pallister-Hall syndrome.

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

    Izdano 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 od Jennifer J. Johnston, Leslie G. Biesecker

    Izdano 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 od Leslie G. Biesecker, Steven M. Harrison

    Izdano 2018
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  11. 11
    Next-generation sequencing demands next-generation phenotyping

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

    Izdano 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 od T. Beck, James C. Mullikin, Leslie G. Biesecker

    Izdano 2016
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  13. 13
    Exome sequencing: the expert view

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

    Izdano 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 od Joyce Turner, M. Michael Cohen, Leslie G. Biesecker

    Izdano 2004
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  15. 15
    Reporting Genomic Sequencing Results to Ordering Clinicians

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

    Izdano 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 od Mauricio De Castro, Jennifer J. Johnston, Leslie G. Biesecker

    Izdano 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 od Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

    Izdano 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 od Celine Hong, Larry N. Singh, James C. Mullikin, Leslie G. Biesecker

    Izdano 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 od Sang Hoon Shin, Priit Kogerman, Erika Lindström, Rune Toftgård, Leslie G. Biesecker

    Izdano 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? od Leslie G. Biesecker, Wylie Burke, Isaac S. Kohane, Sharon E. Plon, Ron Zimmern

    Izdano 2012
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