Výsledky vyhledávání - Stephanie Greville‐Heygate

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  1. 1
    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly

    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly Autor Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt, Eleanor G. Seaby, M. Reza Jabalameli, Sarju Mehta, Michael Parker, David Goudie, Christine Fagotto‐Kaufmann, Catherine Mercer, Anne Debant, Sarah Ennis, Diana Baralle

    Vydáno 2016
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  2. 2
    Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

    Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report Autor Amanda B. Spurdle, Stephanie Greville‐Heygate, Antonis C. Antoniou, Melissa A. Brown, Leslie Burke, Miguel de la Hoya, Susan M. Domchek, Thilo Dörk, Helen V. Firth, Álvaro N.A. Monteiro, Arjen R. Mensenkamp, Michael T. Parsons, Paolo Radice, Mark E. Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike P.G. Vreeswijk, Logan C. Walker, Sean V. Tavtigian, Diana Eccles

    Vydáno 2019
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  3. 3
    Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

    Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study Autor Ellen Copson, Tom Maishman, William Tapper, Ramsey Cutress, Stephanie Greville‐Heygate, Douglas G. Altman, Bryony Eccles, Sue Gerty, Lorraine Durcan, J. Louise Jones, D. Gareth Evans, Alastair M. Thompson, Paul D.P. Pharoah, Douglas F. Easton, Alison M. Dunning, Andrew M. Hanby, Sunil R. Lakhani, Rosalind A. Eeles, Fiona J. Gilbert, Hisham Hamed, Shirley Hodgson, Peter Simmonds, Louise Stanton, Diana Eccles

    Vydáno 2018
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  4. 4
    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders Autor Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo A. Wai, Alexander J.M. Dingemans, Jayne Y. Hehir‐Kwa, Marjorlaine Willems, Yline Capri, Sarju Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter D. Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Bürglen, Marion Gérard, Audrey Putoux, Vincent Cantagrel, Karine Siquier-Pernet, Marlène Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau‐Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

    Vydáno 2020
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  5. 5
    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients Autor Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville‐Heygate, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas Andrew Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie Van der Aa, R. Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Álvarez, Alberto Fernández‐Jaén, Frank T. McGehee, Katherine Selby, Maja Tarailo‐Graovac, Margot Van Allen, Clara van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo W. Y. Chu, Brian Hon‐Yin Chung, Bert B.A. de Vries, Koenraad Devriendt, Matthew E. Hurles, Han G. Brunner

    Vydáno 2016
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  6. 6
    Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

    Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy Autor David Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, John C. Ambrose, Prabhu Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Candice Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Adam Giess, J.M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, John E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Kim Lawson, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Christopher A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Samuel C. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rosy Sultana, M. Tanguy, E.R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville‐Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson

    Vydáno 2020
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