作者搜索结果

1

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

出版 2000

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

出版 2008

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Genomic disorders ten years on 由 Lupski, James R

出版 2009

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

出版 2003

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

出版 2015

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

出版 2004

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

出版 2019

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

出版 2021

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

出版 2022

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

出版 2005

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

出版 2009

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12

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

出版 2015

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

出版 2015

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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 由 Yan, Jiong, Bi, Weimin, Lupski, James R.

出版 2007

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

出版 2008

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

出版 2008

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

出版 2010

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

出版 2013

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

出版 2013

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

出版 2016

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检索结果 - Lupski, James R.

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

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

Genomic disorders ten years on 由 Lupski, James R

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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