Výsledky vyhledávání - Ruth Newbury‐Ecob

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  1. 1
    New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

    New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome Autor Cornelis A. Albers, Ruth Newbury‐Ecob, Willem H. Ouwehand, Cédric Ghevaert

    Vydáno 2013
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  2. 2
    Holt-Oram syndrome: a clinical genetic study.

    Holt-Oram syndrome: a clinical genetic study. Autor Ruth Newbury‐Ecob, R Leanage, J. A. Raeburn, I.D. Young

    Vydáno 1996
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  3. 3
    Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

    Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease Autor Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury‐Ecob, Sian Ellard

    Vydáno 2011
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  4. 4
    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Autor Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne

    Vydáno 2006
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  5. 5
    Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

    Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma Autor Alexander W. Wyatt, Preeti Bakrania, David J. Bunyan, Robert J. Osborne, John A. Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury‐Ecob, Yassir Abou-Rayyah, J. R. O. Collin, David Robinson, Nicola Ragge

    Vydáno 2008
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  6. 6
    Neutropenia in Barth syndrome: characteristics, risks, and management

    Neutropenia in Barth syndrome: characteristics, risks, and management Autor Colin G. Steward, Sarah Groves, Carolyn T. Taylor, Melissa K. Maisenbacher, Birgitta Versluys, Ruth Newbury‐Ecob, Hülya Özşahin, Michaela K. Damin, Valerie M. Bowen, Katherine R. McCurdy, Michael C. Mackey, Audrey Anna Bolyard, David C. Dale

    Vydáno 2018
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  7. 7
    Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

    Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome Autor Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus‐Eric Ott, Judith G. Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth Newbury‐Ecob, Luitgard M. Neumann, R. Habenicht, Rainer König, E Seemanová, André Mégarbané, Hans‐Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos

    Vydáno 2007
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  8. 8
    Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

    Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy Autor Florence Kyndt, Jean-Pierre Gueffet, Vincent Probst, Philippe Jaafar, Antoine Legendre, Françoise Le Bouffant, Claire Toquet, Estelle Roy, Lesley McGregor, Sally Ann Lynch, Ruth Newbury-Ecob, Vinh Tran, Ian Young, Jean‐Noël Trochu, Hervé Le Marec, Jean‐Jacques Schott

    Vydáno 2006
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  9. 9
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect Autor Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    Vydáno 2020
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  10. 10
    Mutation in myosin heavy chain 6 causes atrial septal defect

    Mutation in myosin heavy chain 6 causes atrial septal defect Autor Yung‐Hao Ching, Tushar K. Ghosh, Steve J. Cross, Elizabeth A. Packham, Louise Honeyman, Siobhan Loughna, Thelma Robinson, Andrew Dearlove, Glòria Ribas, Andrew J. Bonser, Neil R. Thomas, Andrew J. Scotter, Leo S. D. Caves, Graham P. Tyrrell, Ruth Newbury‐Ecob, Arnold Münnich, Damien Bonnet, J. David Brook

    Vydáno 2005
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  11. 11
    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Autor Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan Kenwrick, Chong Ae Kim, Éva Morava, Ruth Newbury‐Ecob, Karen Helene Ørstavik, Oliver Quarrell, Charles E. Schwartz, Deborah Shears, Mohnish Suri, John Kendrick‐Jones, Andrew O.M. Wilkie

    Vydáno 2003
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  12. 12
    Barth syndrome

    Barth syndrome Autor Sarah L. N. Clarke, Ann Bowron, Iris L. Gonzalez, Sarah Groves, Ruth Newbury‐Ecob, Nicol Clayton, Robin P. Martin, Beverly Tsai‐Goodman, Vanessa Garratt, Michael Ashworth, Valerie M. Bowen, Katherine R. McCurdy, Michaela K. Damin, Carolyn T. Spencer, Matthew J. Toth, Richard I. Kelley, Colin G. Steward

    Vydáno 2013
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  13. 13
    Expanding the genotypic spectrum of Perrault syndrome

    Expanding the genotypic spectrum of Perrault syndrome Autor Leigh Demain, Jill Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg, Simon H. S. Pearce, Stavit A. Shalev, Wyatt W. Yue, Sabrina MacKinnon, Kevin J. Munro, Ruth Newbury‐Ecob, Kerstin Becker, M.J. Kim, Raymond T. O. Keefe, William G. Newman

    Vydáno 2016
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  14. 14
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis Autor Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen‐Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjærgaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Katherine Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter D. Turnpenny, Bregje W.M. van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

    Vydáno 2011
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  15. 15
    Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

    Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity Autor Alireza Jalali, Kimberly A. Aldinger, Ajit Chary, David G. McLone, Robin Bowman, Luan Cong Le, Phillip E. Jardine, Ruth Newbury‐Ecob, Andrew A. Mallick, Nadereh Jafari, Eric J. Russell, John S. Curran, Pam Nguyen, Karim Ouahchi, Charles Lee, William B. Dobyns, Kathleen J. Millen, João Monteiro de Pina Neto, John A. Kessler, Alexander G. Bassuk

    Vydáno 2008
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  16. 16
    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome Autor Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Michael J. Bamshad, Bridget Kramer, Arie Smits, Ruth Newbury‐Ecob, Raoul C. M. Hennekam, Griet Van Buggenhout, Arie van Haeringen, C. Geoffrey Woods, Anthonie J. van Essen, Rob de Waal, Gert Vriend, Daniel A. Haber, Annie Yang, Frank McKeon, Han G. Brunner, Hans van Bokhoven

    Vydáno 1999
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  17. 17
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability Autor Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    Vydáno 2017
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  18. 18
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome Autor Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    Vydáno 2019
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  19. 19
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome Autor Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    Vydáno 2016
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  20. 20
    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging Autor Aaron R. Jeffries, Reza Maroofian, Claire Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah Mackay, Faisal I. Rezwan, Lise Aksglæde, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury‐Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton‐Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple

    Vydáno 2019
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