Resultats de la cerca - Lupski, James R.

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

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

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Genomic disorders ten years on per Lupski, James R

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

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

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

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

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

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

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

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

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

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From genes to genomes in the clinic per 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 per Yan, Jiong, Bi, Weimin, Lupski, James R.

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

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

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

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

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

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