Výsledky vyhledávání - Deborah Ruddy

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  1. 1
    Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3

    Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3 Autor Caroline Vance, Ammar Al‐Chalabi, Deborah Ruddy, Bradley Smith, Xun Hu, Jemeen Sreedharan, Teepu Siddique, Helenius J. Schelhaas, Benno Küsters, Dirk Troost, Frank Baas, Vianney de Jong, Christopher E. Shaw

    Vydáno 2006
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  2. 2
    Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q

    Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q Autor Deborah Ruddy, M. Parton, Ammar Al‐Chalabi, Cathryn M. Lewis, Caroline Vance, Bradley Smith, P. Nigel Leigh, John Powell, Teepu Siddique, Eelco Postumus Meyjes, Frank Baas, Vianney de Jong, Christopher E. Shaw

    Vydáno 2003
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  3. 3
    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies Autor Maja Sukalo, Felix Tilsen, Hülya Kayserili, Dietmar Müller, Beyhan Tüysüz, Deborah Ruddy, Emma Wakeling, Karen Helene Ørstavik, Katie Snape, Richard C. Trembath, Maryse De Smedt, Nathalie Van der Aa, Martin Skalej, Stefan Mundlos, Wim Wuyts, Laura Southgate, Martin Zenker

    Vydáno 2015
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  4. 4
    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Autor Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Edward J. Taylor, Claire Collinson, Deborah Ruddy, Katie Snape, Bruno Dallapiccola, John Tolmie, Shelagh Joss, Francesco Brancati, M. Cristina Digilio, Luitgard Graul‐Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D. Machado, Richard C. Trembath

    Vydáno 2015
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  5. 5
    Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

    Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies Autor Laura Southgate, Rajiv D. Machado, Katie Snape, Martin Primeau, Dimitra Dafou, Deborah Ruddy, Peter Branney, Malcolm E Fisher, Grace J. Lee, Michael A. Simpson, Yi He, Teisha Y. Bradshaw, Bettina Blaumeiser, W S Winship, William Reardon, Eamonn R. Maher, David Fitzpatrick, Wim Wuyts, Martin Zenker, Nathalie Lamarche‐Vane, Richard C. Trembath

    Vydáno 2011
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  6. 6
    Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

    Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 Autor Caroline Vance, Boris Rogelj, Tibor Hortobágyi, Kurt J. De Vos, Agnes L. Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul D. Wright, Jeban Ganesalingam, Kelly L. Williams, Vineeta Tripathi, Safa Al‐Saraj, Ammar Al‐Chalabi, P. Nigel Leigh, Ian P. Blair, Garth A. Nicholson, Jackie de Belleroche, Jean‐Marc Gallo, Christopher C.J. Miller, Christopher E. Shaw

    Vydáno 2009
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  7. 7
    Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study

    Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study Autor Ralf Reilmann, Karen E. Anderson, Andrew Feigin, Sarah J. Tabrizi, Blair R. Leavitt, Julie C. Stout, Paola Piccini, Robin Schubert, Pippa S. Loupe, Anna Teige Wickenberg, Beth Borowsky, Gail Rynkowski, Rita Volkinshtein, Thomas Li, Juha‐Matti Savola, Michael R. Hayden, Mark Forrest Gordon, Mark Guttman, Lynn A. Raymond, Tilak Mendis, Oksana Suchowersky, Jody Corey‐Bloom, Michael D. Geschwind, Frederick J. Marshall, Karen Marder, Martha Nance, Brad A. Racette, Jee Bang, Victoria Segro, Katherine E. McDonell, John Kamholz, Mark S. LeDoux, Juan Sanchez‐Ramos, Giuseppe Demichele, Caterina Mariotti, Ferdinando Squitieri, Paola Soliveri, Pietro Cortelli, José Esteban Muñoz García, J. Kulisevsky Bojarski, José Luis López-Sendón, Koldo Berganzo Corrales, Esther Cubo, José Manuel García Moreno, Michael Orth, Josef Priller, Carsten Saft, A. Weindl, Jürgen Winkler, David Craufurd, Z Miedzybrodzka, Hugh Rickards, Rhys Richard Davies, Nayana Lahiri, Deborah Ruddy, Suresh K Komati, Oliver William John Quarrell, Leonor Correira Guedes, Raymund A.C. Roos, Zuleykha Zalyalova, С. Н. Иллариошкин, А В Густов, Jiří Klempíř

    Vydáno 2024
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  8. 8
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism Autor Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Vydáno 2014
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