検索結果 - Alexa Kidd

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  1. 1
    Residual Ataxia Telangiectasia Mutated Protein Function in Cells from Ataxia Telangiectasia Patients, with 5762ins137 and 7271T→G Mutations, Showing a Less Severe Phenotype

    Residual Ataxia Telangiectasia Mutated Protein Function in Cells from Ataxia Telangiectasia Patients, with 5762ins137 and 7271T→G Mutations, Showing a Less Severe Phenotype 著者: Grant S. Stewart, James I. Last, Tatjana Stanković, Neva E. Haites, Alexa Kidd, Philip J. Byrd, A. Malcolm R. Taylor

    出版事項 2001
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    Artigo
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  2. 2
    Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

    Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas 著者: Imke Christiaans, S. B. Kenter, H. C. Brink, Theo A.M. van Os, Frank Baas, Pepijn van den Munckhof, Alexa Kidd, Theo J.M. Hulsebos

    出版事項 2010
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    Artigo
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  3. 3
    Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

    Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog 著者: Ashley M Byrnes, Lemuel Racacho, Allison Grimsey, Louanne Hudgins, Andrea Kwan, Michel Sangalli, Alexa Kidd, Yuval Yaron, YL Lau, Sarah M. Nikkel, Dennis E. Bulman

    出版事項 2009
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    Artigo
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  4. 4
    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B 著者: Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen V. Firth, David Fitzpatrick, Alexa Kidd, K Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman

    出版事項 2004
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    Artigo
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  5. 5
    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males 著者: Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, Maria Teresa Cruz Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie

    出版事項 2006
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    Artigo
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  6. 6
    The spectrum of<i>WRN</i>mutations in Werner syndrome patients

    The spectrum of<i>WRN</i>mutations in Werner syndrome patients 著者: Shurong Huang, Lin Lee, Nancy Hanson, C Lenaerts, Holger Hoehn, Martin Poot, Craig D. Rubin, Da-Fu Chen, Chih‐Chao Yang, Heike Juch, Thomas Dorn, Roland Spiegel, Elif A Oral, Mohammed Abid, Carla Battisti, Emanuela Lucci‐Cordisco, Giovanni Neri, Erin H. Steed, Alexa Kidd, William L. Isley, David Showalter, Janet L. Vittone, A. Konstantinow, Johannes Ring, Peter Meyer, Sharon L. Wenger, A. von Herbay, Uwe Wollina, Markus Schuelke, Carin R. Huizenga, Dru F. Leistritz, George M. Martin, Shahzad I. Mian, Junko Oshima

    出版事項 2006
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    Artigo
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  7. 7
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 著者: Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    出版事項 2010
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    Artigo
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