खोज परिणाम - Sarah B. Daly

  • प्रदर्शित 1 - 15 परिणाम 15
परिणाम को परिष्कृत करें
  1. 1
    Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trial

    Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 tria... द्वारा John A. Liu Yin, Michelle A. O'Brien, Robert K. Hills, Sarah B. Daly, Keith Wheatley, Alan K. Burnett

    प्रकाशित 2012
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    Artigo
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  2. 2
    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis

    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis द्वारा Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha

    प्रकाशित 2014
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    Artigo
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  3. 3
    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome द्वारा James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, Jill Urquhart, Martin Barron, Sanjeev S. Bhaskar, Hercílio Martelli‐Júnior, Pedro Eleutério dos Santos Neto, M. Adela Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme Black, Michael J. Dixon

    प्रकाशित 2011
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    Artigo
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  4. 4
    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth द्वारा Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black

    प्रकाशित 2011
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    Artigo
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  5. 5
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria द्वारा Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    प्रकाशित 2010
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    Artigo
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  6. 6
    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis द्वारा Miriam J. Smith, B. Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O’Sullivan, Beverly Anderson, Sarah B. Daly, Jill Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, S. Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans

    प्रकाशित 2014
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    Artigo
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  7. 7
    Mutations in HPSE2 Cause Urofacial Syndrome

    Mutations in HPSE2 Cause Urofacial Syndrome द्वारा Sarah B. Daly, Jill Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen M. Stuart, Donnai Dian, David A. Long, Berk Burgu, Özgü Aydoğdu, Murat Derbent, Sixto García‐Miñaúr, William Reardon, Blanca Gener, Stavit A. Shalev, Rupert Smith, Adrian S. Woolf, Graeme Black, William G. Newman

    प्रकाशित 2010
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    Artigo
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  8. 8
    Real-Time Quantitative Polymerase Chain Reaction Detection of Minimal Residual Disease by Standardized <i>WT1</i> Assay to Enhance Risk Stratification in Acute Myeloid Leukemia: A European LeukemiaNet Study

    Real-Time Quantitative Polymerase Chain Reaction Detection of Minimal Residual Disease by Standardized <i>WT1</i> Assay to Enhance Risk Stratification in Acute Myeloid Leukemia: A... द्वारा Daniela Cilloni, Aline Renneville, Fabienne Hermitte, Robert K. Hills, Sarah B. Daly, Jelena Jovanović, Enrico Gottardi, Milena Fava, Susanne Schnittger, Tamara Weiss, Barbara Izzo, Josep Nomdedéu, Adrian van der Heijden, Bert A. van der Reijden, Joop H. Jansen, Vincent H. J. van der Velden, Hans Beier Ommen, Claude Preudhomme, Giuseppe Saglio, David Grimwade

    प्रकाशित 2009
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    Artigo
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  9. 9
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome द्वारा Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    प्रकाशित 2011
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    Artigo
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  10. 10
    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance द्वारा Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo Zeef, Jill Urquhart, Nicoletta Zoppi, R E Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate Chandler, Siddharth Banka, Leon Au, Jill Clayton‐Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme Black

    प्रकाशित 2011
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    Artigo
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  11. 11
    LRIG2 Mutations Cause Urofacial Syndrome

    LRIG2 Mutations Cause Urofacial Syndrome द्वारा Helen M. Stuart, Neil Roberts, Berk Burgu, Sarah B. Daly, Jill Urquhart, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selçuk Sılay, Malcolm Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Cem Süer, Tarkan Soygür, Zeynep Birsin Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Fırat Erdoğan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma Hilton, Adrian S. Woolf, William G. Newman

    प्रकाशित 2013
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    Artigo
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  12. 12
    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation द्वारा Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot, Isabelle Rouvet, Sanjeev S. Bhaskar, Sarah B. Daly, Jonathan E. Dickerson, Joséphine Mayer, James O’Sullivan, Laurent Juillard, Jill Urquhart, Shameem Fawdar, Anna A. Marusiak, Natalie L. Stephenson, Bohdan Waszkowycz, Michael W. Beresford, Leslie G. Biesecker, Graeme Black, Céline René, Jean‐François Eliaou, Nicole Fabien, Bruno Ranchin, Pierre Cochat, Patrick M. Gaffney, Flore Rozenberg, Pierre Lebon, Christophe Malcus, Yanick J. Crow, John Brognard, Nathalie Bonnefoy

    प्रकाशित 2013
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    Artigo
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  13. 13
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome द्वारा Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    प्रकाशित 2014
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    Artigo
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  14. 14
    Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

    Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature द्वारा Tracy A. Briggs, Gillian Rice, Sarah B. Daly, Jill Urquhart, Hannah Gornall, Brigitte Bader‐Meunier, Kannan Baskar, Shankar Baskar, Véronique Baudouin, Michael W. Beresford, Graeme Black, Rebecca J. Dearman, Francis de Zegher, Emily Foster, Camille Françès, Alison R. Hayman, Emma Hilton, C Job-Deslandre, Muralidhar L. Kulkarni, Martine Le Merrer, Agnès Linglart, Simon C. Lovell, Kathrin Maurer, Lucile Musset, Vincent Navarro, Capucine Pïcard, Anne Puel, Frédéric Rieux‐Laucat, Chaim M. Roifman, Sabine Scholl‐Bürgi, Nigel Smith, Marcin Szynkiewicz, Alice Wiedeman, Carine Wouters, Leo Zeef, Jean‐Laurent Casanova, Keith B. Elkon, Anthony J. Janckila, Pierre Lebon, Yanick J. Crow

    प्रकाशित 2011
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    Artigo
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  15. 15
    Urinary Tract Effects of HPSE2 Mutations

    Urinary Tract Effects of HPSE2 Mutations द्वारा Helen M. Stuart, Neil Roberts, Emma Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, S.W.M. Tanley, Malcolm Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Perapoch Amadó, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selçuk Sılay, John M. Darlow, Mark G. Dobson, David Barton, Manuela Hunziker, Prem Puri, Sally Feather, Judith A. Goodship, Timothy H.J. Goodship, H Lambert, Heather J. Cordell, Anand Saggar, Maria Kinali, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun Karabay Bayazıt, Stefanie Weber, William G. Newman, Adrian S. Woolf

    प्रकाशित 2014
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    Artigo
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