Hasil Pencarian - David A Stevenson

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  1. 1
    Osteogenesis imperfecta type XVII: expansion of the phenotype

    Osteogenesis imperfecta type XVII: expansion of the phenotype oleh Brooke M. Dunleavy, Alison J. Schildt, Caitlin Harrington, David A. Stevenson

    Diterbitkan 2024-01-01
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  2. 2
    Genetic Variants Associated with Port-Wine Stains.

    Genetic Variants Associated with Port-Wine Stains. oleh Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T Tan, Rebecca Margraf, David A Stevenson, J Fredrik Grimmer, Pinar Bayrak-Toydemir

    Diterbitkan 2015-01-01
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  3. 3
    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment oleh Katharina Schimmel, Md Khadem Ali, Serena Y. Tan, Joyce Teng, Huy M. Do, Gary K. Steinberg, David A. Stevenson, Edda Spiekerkoetter

    Diterbitkan 2021-08-01
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  4. 4
    Dystrophic spinal deformities in a neurofibromatosis type 1 murine model.

    Dystrophic spinal deformities in a neurofibromatosis type 1 murine model. oleh Steven D Rhodes, Wei Zhang, Dalong Yang, Hao Yang, Shi Chen, Xiaohua Wu, Xiaohong Li, Xianlin Yang, Khalid S Mohammad, Theresa A Guise, Amanda L Bergner, David A Stevenson, Feng-Chun Yang

    Diterbitkan 2015-01-01
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  5. 5
    Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

    Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome oleh Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell

    Diterbitkan 2021-01-01
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  6. 6
    The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

    The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. oleh Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika S S Petersen, Jeanne Mari V Bang, Barbara Guerra, Henriette Skovgaard Andersen, Steven F Dobrowolski, John C Carey, Ping Yu, Cecily Vaughn, Amy Calhoun, Martin R Larsen, Lars Dyrskjøt, David A Stevenson, Brage S Andresen

    Diterbitkan 2016-05-01
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  7. 7
    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era oleh Jamie eMcDonald, Jamie eMcDonald, Whitney eWooderchak-Donahue, Whitney eWooderchak-Donahue, Chad eVanSant Webb, Kevin eWhitehead, Kevin eWhitehead, Kevin eWhitehead, Kevin eWhitehead, David A. Stevenson, Pinar eBayrak-Toydemir, Pinar eBayrak-Toydemir

    Diterbitkan 2015-01-01
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  8. 8
    Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

    Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. oleh Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk

    Diterbitkan 2014-01-01
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  9. 9
    Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

    Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen... oleh Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie Golden‐Grant, Kristina Tarczy‐Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A. Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese, Undiagnosed Diseases Network, Michael F. Wangler

    Diterbitkan 2021-01-01
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  10. 10
    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders oleh Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani

    Diterbitkan 2017-08-01
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