Canlyniadau Chwilio - Lupski, James R.

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

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

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Genomic disorders ten years on gan Lupski, James R

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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