Ohcanbohtosat - Lupski, James R

Aiddostahte ozu
  1. 1
    Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)

    Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L) Dahkki Lupski, James R.

    Almmustuhtton 2000
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  2. 2
    Allan Award Introduction: Arthur L. Beaudet

    Allan Award Introduction: Arthur L. Beaudet Dahkki Lupski, James R.

    Almmustuhtton 2008
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  3. 3
    Genomic disorders ten years on

    Genomic disorders ten years on Dahkki Lupski, James R

    Almmustuhtton 2009
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  4. 4
    Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture

    Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture Dahkki Lupski, James R.

    Almmustuhtton 2003
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  5. 5
    Cognitive Phenotypes and Genomic Copy Number Variations

    Cognitive Phenotypes and Genomic Copy Number Variations Dahkki Lupski, James R.

    Almmustuhtton 2015
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  6. 6
    Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

    Hotspots of homologous recombination in the human genome: not all homologous sequences are equal Dahkki Lupski, James R

    Almmustuhtton 2004
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  7. 7
    2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements

    2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements Dahkki Lupski, James R.

    Almmustuhtton 2019
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  8. 8
    Clan Genomics: from OMIM phenotypic traits to genes and biology

    Clan Genomics: from OMIM phenotypic traits to genes and biology Dahkki Lupski, James R.

    Almmustuhtton 2021
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  9. 9
    Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine

    Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine Dahkki Lupski, James R.

    Almmustuhtton 2022
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  10. 10
    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes Dahkki Lupski, James R, Stankiewicz, Pawel

    Almmustuhtton 2005
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  11. 11
    Charcot–Marie–Tooth disease

    Charcot–Marie–Tooth disease Dahkki Szigeti, Kinga, Lupski, James R

    Almmustuhtton 2009
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  12. 12
    Non-coding genetic variants in human disease

    Non-coding genetic variants in human disease Dahkki Zhang, Feng, Lupski, James R.

    Almmustuhtton 2015
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  13. 13
    From genes to genomes in the clinic

    From genes to genomes in the clinic Dahkki Veltman, Joris A., Lupski, James R.

    Almmustuhtton 2015
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  14. 14
    Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

    Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike Dahkki Yan, Jiong, Bi, Weimin, Lupski, James R.

    Almmustuhtton 2007
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  15. 15
    Copy number variation at the breakpoint region of isochromosome 17q

    Copy number variation at the breakpoint region of isochromosome 17q Dahkki Carvalho, Claudia M.B., Lupski, James R.

    Almmustuhtton 2008
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  16. 16
    Mechanisms for human genomic rearrangements

    Mechanisms for human genomic rearrangements Dahkki Gu, Wenli, Zhang, Feng, Lupski, James R

    Almmustuhtton 2008
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  17. 17
    Personal genome research: what should the participant be told?

    Personal genome research: what should the participant be told? Dahkki McGuire, Amy L., Lupski, James R.

    Almmustuhtton 2010
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  18. 18
    A functional role for structural variation in metabolism

    A functional role for structural variation in metabolism Dahkki Lacaria, Melanie, Gu, Wenli, Lupski, James R.

    Almmustuhtton 2013
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  19. 19
    Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1

    Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1 Dahkki Lacaria, Melanie, Gu, Wenli, Lupski, James R

    Almmustuhtton 2013
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  20. 20
    Mechanisms underlying structural variant formation in genomic disorders

    Mechanisms underlying structural variant formation in genomic disorders Dahkki Carvalho, Claudia M. B., Lupski, James R.

    Almmustuhtton 2016
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