検索結果 - Weimin Bi

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  1. 1
    Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2

    Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2 著者: Christine J. Shaw, Weimin Bi, James R. Lupski

    出版事項 2002
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    Artigo
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  2. 2
    Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)

    Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2) 著者: Katherina Walz, Richard Paylor, Jiong Yan, Weimin Bi, James R. Lupski

    出版事項 2006
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    Artigo
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  3. 3
    DNA Binding Specificity of the CCAAT-binding Factor CBF/NF-Y

    DNA Binding Specificity of the CCAAT-binding Factor CBF/NF-Y 著者: Weimin Bi, Ling Wu, Françoise Coustry, Benoît De Crombrugghe, Sankar N. Maity

    出版事項 1997
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    Artigo
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  4. 4
    Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

    Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 著者: Weimin Bi, Sung Sup Park, Christine J. Shaw, Marjorie Withers, Pragna I. Patel, James R. Lupski

    出版事項 2003
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    Artigo
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  5. 5
    Haploinsufficiency of <i>Sox9</i> results in defective cartilage primordia and premature skeletal mineralization

    Haploinsufficiency of <i>Sox9</i> results in defective cartilage primordia and premature skeletal mineralization 著者: Weimin Bi, Wendong Huang, Deanne J. Whitworth, Jian Min Deng, Zhaoping Zhang, Richard R. Behringer, Benoît De Crombrugghe

    出版事項 2001
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    Artigo
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  6. 6
    PRISMA-Compliant Article

    PRISMA-Compliant Article 著者: Baoge Qu, Weimin Bi, Bao-Teng Qu, Tao Qu, Xinghai Han, Hui Wang, Yuan-Xun Liu, Yi-Guo Jia

    出版事項 2016
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    Revisão
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  7. 7
    Aneuploidy as a mechanism for stress-induced liver adaptation

    Aneuploidy as a mechanism for stress-induced liver adaptation 著者: Andrew W. Duncan, Amy E. Hanlon Newell, Weimin Bi, Milton J. Finegold, Susan B. Olson, Arthur L. Beaudet, Markus Grompe

    出版事項 2012
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    Artigo
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  8. 8
    Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

    Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs 著者: Sung Sup Park, Paweł Stankiewicz, Weimin Bi, Christine J. Shaw, Jessica A. Lehoczky, Ken Dewar, Bruce W. Birren, James R. Lupski

    出版事項 2002
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    Artigo
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  9. 9
    Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

    Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance 著者: Katherina Walz, Sandra Caratini-Rivera, Weimin Bi, Patricia Fonseca, Dena L. Mansouri, Jennifer Lynch, Hannes Vogel, Jeffrey L. Noebels, Allan Bradley, James R. Lupski

    出版事項 2003
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    Artigo
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  10. 10
    Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes

    Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes 著者: Weimin Bi, Jiong Yan, Xin Shi, Lisa A. Yuva‐Paylor, Barbara Antalffy, Alica M. Goldman, Jong W. Yoo, Jeffrey L. Noebels, Dawna L. Armstrong, Richard Paylor, James R. Lupski

    出版事項 2007
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    Artigo
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  11. 11
    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse 著者: Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koenraad Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski

    出版事項 2002
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    Artigo
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  12. 12
    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

    Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? 著者: Weimin Bi, Caroline Borgan, Amber N. Pursley, Patricia Hixson, Chad A. Shaw, Carlos A. Bacino, Seema R. Lalani, Ankita Patel, Paweł Stankiewicz, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung

    出版事項 2012
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    Artigo
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  13. 13
    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

    CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree 著者: Claudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna Kołodziejska, Rachel Miller, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, Christian P. Schaaf

    出版事項 2014
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    Artigo
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  14. 14
    Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans

    Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans 著者: Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen Matthews, Joshua McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, C. Lucas

    出版事項 2017
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    Carta
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  15. 15
    Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

    Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles 著者: Philip M. Boone, Ian M. Campbell, Brett Baggett, Zachry T. Soens, Mitchell M. Rao, Patricia Hixson, Ankita Patel, Weimin Bi, Sau Wai Cheung, Seema R. Lalani, Arthur L. Beaudet, Paweł Stankiewicz, Chad A. Shaw, James R. Lupski

    出版事項 2013
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    Artigo
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  16. 16
    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 著者: Shen Gu, Bo Yuan, Ian M. Campbell, Christine R. Beck, Claudia M.B. Carvalho, Sandesh C.S. Nagamani, Ayelet Erez, Ankita Patel, Carlos A. Bacino, Chad A. Shaw, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, James R. Lupski

    出版事項 2015
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    Artigo
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  17. 17
    Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

    Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases 著者: Justin Pham, Chad A. Shaw, Amber N. Pursley, Patricia Hixson, Srirangan Sampath, Erin K. Roney, Tomasz Gambin, Sung‐Hae Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, James R. Lupski, Paweł Stankiewicz, Ankita Patel, Sau-Wai Cheung

    出版事項 2014
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    Artigo
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  18. 18
    6q22.1 microdeletion and susceptibility to pediatric epilepsy

    6q22.1 microdeletion and susceptibility to pediatric epilepsy 著者: Przemysław Szafrański, Gretchen K. Von Allmen, Brett H. Graham, Angus A. Wilfong, Sung‐Hae Kang, José Alexandre Ferreira, Sheila Upton, John B. Moeschler, Weimin Bi, Jill A. Rosenfeld, Lisa G. Shaffer, Sau Wai Cheung, Paweł Stankiewicz, Seema R. Lalani

    出版事項 2014
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    Artigo
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  19. 19
    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders 著者: Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie

    出版事項 2019
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    Artigo
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  20. 20
    Mechanisms for Complex Chromosomal Insertions

    Mechanisms for Complex Chromosomal Insertions 著者: Shen Gu, Przemysław Szafrański, Zeynep Coban‐Akdemir, Bo Yuan, M. Lance Cooper, Maria A. Magriñá, Carlos A. Bacino, Seema R. Lalani, Amy M. Breman, Janice Smith, Ankita Patel, Rodger Song, Weimin Bi, Sau Wai Cheung, Claudia M.B. Carvalho, Paweł Stankiewicz, James R. Lupski

    出版事項 2016
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    Artigo
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