Resultados de procura - Charles E. Schwartz

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  1. 1
    Detecting Polymorphisms and Mutations in Candidate Genes

    Detecting Polymorphisms and Mutations in Candidate Genes por Julianne S. Collins, Charles E. Schwartz

    Publicado 2002
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  2. 2
    <i>MED</i><i>12</i> related disorders

    <i>MED</i><i>12</i> related disorders por John M. Graham, Charles E. Schwartz

    Publicado 2013
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  3. 3
    The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome

    The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome por Charles E. Schwartz, Roger E. Stevenson

    Publicado 2007
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  4. 4
    Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

    Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms por Anand K. Srivastava, Charles E. Schwartz

    Publicado 2014
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  5. 5
    XLMR genes: update 2007

    XLMR genes: update 2007 por Pietro Chiurazzi, Charles E. Schwartz, Jozef Gécz, Giovanni Neri

    Publicado 2008
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  6. 6
    In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

    In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase por Zhe Zhang, Joy Norris, Charles E. Schwartz, Emil Alexov

    Publicado 2011
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  7. 7
    Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

    Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery por Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

    Publicado 2012
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  8. 8
    A missense mutation in <i>CLIC2</i> associated with intellectual disability is predicted by <i>in silico</i> modeling to affect protein stability and dynamics

    A missense mutation in <i>CLIC2</i> associated with intellectual disability is predicted by <i>in silico</i> modeling to affect protein stability and dynamics por Shawn Witham, Kyoko Takano, Charles E. Schwartz, Emil Alexov

    Publicado 2011
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  9. 9
    Computational analysis of missense mutations causing Snyder-Robinson syndrome

    Computational analysis of missense mutations causing Snyder-Robinson syndrome por Zhe Zhang, Shaolei Teng, Liangjiang Wang, Charles E. Schwartz, Emil Alexov

    Publicado 2010
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  10. 10
    Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein protein interaction

    Structural assessment of the effects of Amino Acid Substitutions on protein stability and protein protein interaction por Shaolei Teng, Anand Srivastava, Charles E. Schwartz, Emil Alexov, Liangjiang Wang

    Publicado 2010
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  11. 11
    X‐linked intellectual disability update 2017

    X‐linked intellectual disability update 2017 por Giovanni Neri, Charles E. Schwartz, Herbert A. Lubs, Roger E. Stevenson

    Publicado 2018
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  12. 12
    Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

    Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders por Robert M. Plenge, Roger Stevenson, Herbert A. Lubs, Charles E. Schwartz, Huntington F. Willard

    Publicado 2002
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  13. 13
    A DRD1 haplotype is associated with risk for autism spectrum disorders in male‐only affected sib‐pair families

    A DRD1 haplotype is associated with risk for autism spectrum disorders in male‐only affected sib‐pair families por Joe A. Hettinger, Xudong Liu, Charles E. Schwartz, Ron C. Michaelis, Jeanette J. A. Holden

    Publicado 2008
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  14. 14
    Functional characterization of tissue-specific enhancers in the DLX5/6 locus

    Functional characterization of tissue-specific enhancers in the DLX5/6 locus por Ramon Y. Birnbaum, David B. Everman, Karl K. Murphy, Fiorella Gurrieri, Charles E. Schwartz, Nadav Ahituv

    Publicado 2012
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  15. 15
    Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8

    Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8 por Jurgen Jansen, Edith C. H. Friesema, Monique H. A. Kester, Charles E. Schwartz, Theo J. Visser

    Publicado 2008
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  16. 16
    MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

    MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling por Haiying Zhou, Jason M. Spaeth, Nam Hee Kim, Xuan Xu, Michael J. Friez, Charles E. Schwartz, Thomas G. Boyer

    Publicado 2012
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  17. 17
    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes por Tejasvi Niranjan, Cindy Skinner, Melanie May, Tychele N. Turner, Rebecca Rose, Roger E. Stevenson, Charles E. Schwartz, Tao Wang

    Publicado 2015
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  18. 18
    X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

    X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females por James Amos‐Landgraf, Amy A. Cottle, Robert M. Plenge, Mike Friez, Charles E. Schwartz, John Longshore, Huntington F. Willard

    Publicado 2006
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  19. 19
    Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

    Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system por Alexandre S. Cristino, S. M. Williams, Ziarih Hawi, Joon‐Yong An, Mark A. Bellgrove, Charles E. Schwartz, Luciano da Fontoura Costa, Charles Claudianos

    Publicado 2013
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  20. 20
    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity por Emily Brookes, Benoît Laurent, Katrin Õunap, Renée Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gécz, Yang Shi

    Publicado 2015
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