खोज परिणाम - Paweł Stankiewicz

परिणाम को परिष्कृत करें
  1. 1
    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes द्वारा James R. Lupski, Paweł Stankiewicz

    प्रकाशित 2005
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    Revisão
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  2. 2
    Alveolar Capillary Dysplasia

    Alveolar Capillary Dysplasia द्वारा Naomi B. Bishop, Paweł Stankiewicz, Robin H. Steinhorn

    प्रकाशित 2011
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    Revisão
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  3. 3
    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease द्वारा Avinash V. Dharmadhikari, Przemysław Szafrański, Vladimir V. Kalinichenko, Paweł Stankiewicz

    प्रकाशित 2015
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    Artigo
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  4. 4
    The Evolutionary Chromosome Translocation 4;19 in<i>Gorilla gorilla</i>is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

    The Evolutionary Chromosome Translocation 4;19 in<i>Gorilla gorilla</i>is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Pr... द्वारा Paweł Stankiewicz, Sung Sup Park, Ken Inoue, James R. Lupski

    प्रकाशित 2001
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    Artigo
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  5. 5
    Somatic mosaicism: implications for disease and transmission genetics

    Somatic mosaicism: implications for disease and transmission genetics द्वारा Ian M. Campbell, Chad A. Shaw, Paweł Stankiewicz, James R. Lupski

    प्रकाशित 2015
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    Revisão
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  6. 6
    An estimation of the prevalence of genomic disorders using chromosomal microarray data

    An estimation of the prevalence of genomic disorders using chromosomal microarray data द्वारा Madelyn A. Gillentine, Philip J. Lupo, Paweł Stankiewicz, Christian P. Schaaf

    प्रकाशित 2018
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  7. 7
    Serial segmental duplications during primate evolution result in complex human genome architecture

    Serial segmental duplications during primate evolution result in complex human genome architecture द्वारा Paweł Stankiewicz, Christine J. Shaw, Marjorie Withers, Ken Inoue, James R. Lupski

    प्रकाशित 2004
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    Artigo
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  8. 8
    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease द्वारा Jennifer A. Lee, Ken Inoue, Sau Wai Cheung, Chad A. Shaw, Paweł Stankiewicz, James R. Lupski

    प्रकाशित 2006
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    Artigo
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  9. 9
    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis द्वारा Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz, Anna Gambin

    प्रकाशित 2012
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    Artigo
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  10. 10
    Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

    Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy द्वारा Cornelius F. Boerkoel, Hiroshi Takashima, Paweł Stankiewicz, Carlos García, Steven M. Leber, Laila Rhee-Morris, James R. Lupski

    प्रकाशित 2001
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    Artigo
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  11. 11
    Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

    Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics द्वारा Ian M. Campbell, Jonathan R. Stewart, Regis A. James, James R. Lupski, Paweł Stankiewicz, Peter Olofsson, Chad A. Shaw

    प्रकाशित 2014
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  12. 12
    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 द्वारा Sung Sup Park, Paweł Stankiewicz, Weimin Bi, Christine J. Shaw, Jessica A. Lehoczky, Ken Dewar, Bruce W. Birren, James R. Lupski

    प्रकाशित 2002
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    Artigo
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  13. 13
    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders द्वारा Marie Vincent, Justyna A. Karolak, Gail Deutsch, Tomasz Gambin, Edwina J. Popek, Bertrand Isidor, Przemysław Szafrański, Cédric Le Caignec, Paweł Stankiewicz

    प्रकाशित 2019
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  14. 14
    Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

    Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture द्वारा Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Paweł Stankiewicz, Marjorie Withers, Carl Kashuk, Aravinda Chakravarti, James R. Lupski, David J. Cutler, Nicholas Katsanis

    प्रकाशित 2007
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    Artigo
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  15. 15
    Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

    Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia द्वारा M. Leipoldt, Martin Erdel, G. A. Bien-Willner, Marta Smyk, Milan Theurl, SA Yatsenko, J.R. Lupski, AH Lane, AL Shanske, Paweł Stankiewicz, Gerd Scherer

    प्रकाशित 2006
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  16. 16
    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary vei... द्वारा Przemysław Szafrański, Avinash V. Dharmadhikari, Jennifer Wambach, Chris T. Towe, Frances V. White, R. Mark Grady, Pirooz Eghtesady, F. Sessions Cole, Gail Deutsch, Partha Sen, Paweł Stankiewicz

    प्रकाशित 2014
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  17. 17
    A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

    A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human द्वारा Partha Sen, Romana Gerychová, Petr Janků, Marta Ježová, Iveta Valášková, C. Navarro, Iris A. L. Silva, Claire Langston, Stephen E. Welty, John W. Belmont, Paweł Stankiewicz

    प्रकाशित 2012
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  18. 18
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders द्वारा Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    प्रकाशित 2012
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  19. 19
    Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

    Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia द्वारा Gopalrao V.N. Velagaleti, Gabriel A. Bien‐Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Paweł Stankiewicz

    प्रकाशित 2005
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  20. 20
    The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats

    The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats द्वारा Aikaterini Barbouti, Paweł Stankiewicz, Chad Nusbaum, Christina A. Cuomo, April Cook, Mattias Höglund, Bertil Johansson, Anne Hagemeijer, Sung Sup Park, Felix Mitelman, James R. Lupski, Thoas Fioretos

    प्रकाशित 2004
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