Skip to contents

  1. Brimley, Stephen [Author] ; Garrow, Carrie [Contributor]; Jorgensen, Miriam [Contributor]; Wakeling, Stewart [Contributor]

    Outcome Evaluation of the Comprehensive Indian Resources for Community and Law Enforcement (CIRCLE) Project With Data From Nine Tribes in the United States, 1995-2004

    Books
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    [Erscheinungsort nicht ermittelbar]: [Verlag nicht ermittelbar], 2008

  2. Evans, Connor; Shepherd, Lucy; Bryan, Gemma; Fulbright, Helen; Crowther, Scott; Wakeling, Sara; Stewart, Andy; Stewart, Claire; Chisholm, Julia; Gibson, Faith; Phillips, Bob; Morgan, Jessica E.

    A systematic review of early phase studies for children and young people with relapsed and refractory rhabdomyosarcoma: The REFoRMS‐SR project

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2024

    Published in: International Journal of Cancer

  3. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2019

    Published in: Nature Genetics

  4. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2018

    Published in: Nature Genetics

  5. Olley, Gabrielle; Ansari, Morad; Bengani, Hemant; Grimes, Graeme R.; Rhodes, James; von Kriegsheim, Alex; Blatnik, Ana; Stewart, Fiona J.; Wakeling, Emma; Carroll, Nicola; Ross, Alison; Park, Soo-Mi; Bickmore, Wendy A.; Pradeepa, Madapura M.; FitzPatrick, David R.

    Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2018

    Published in: Nature Genetics

  6. Mayer, Josephine; Jenkinson, Emma; Kasher, Paul; Stivaros, Stavros; Berger, Andrea; Cordelli, Duccio; Ferreira, Patrick; Jefferson, Rosalind; Kutschke, Georg; Lundberg, Staffan; Ounap, Katrin; Prabhakar, Prab; Soh, Calvin; Stewart, Helen; Stone, Jon; van der Knaap, Marjo; van Esch, Hilda; van Mol, Christine; Wakeling, Emma; Whitney, Andrea; Rice, Gillian; Crow, Yanick; Livingston, John

    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Georg Thieme Verlag KG, 2014

    Published in: Neuropediatrics

  7. Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; [...]

    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2024

    Published in: Brain

  8. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2017

    Published in: Nature Genetics

  9. Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; [...]

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2016

    Published in: Nature Genetics

  10. Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; [...]

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

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    BMJ, 2014

    Published in: Journal of Medical Genetics

  11. Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; Chong, Wui K; Cordelli, Duccio M; Ferreira, Patrick; Fluss, Joel; [...]

    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2012

    Published in: Nature Genetics

  12. Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; [...]

    The contribution of X-linked coding variation to severe developmental disorders

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications

  13. Kaplanis, Joanna; Samocha, Kaitlin E.; Wiel, Laurens; Zhang, Zhancheng; Arvai, Kevin J.; Eberhardt, Ruth Y.; Gallone, Giuseppe; Lelieveld, Stefan H.; Martin, Hilary C.; McRae, Jeremy F.; Short, Patrick J.; Torene, Rebecca I.; de Boer, Elke; Danecek, Petr; Gardner, Eugene J.; Huang, Ni; Lord, Jenny; Martincorena, Iñigo; Pfundt, Rolph; Reijnders, Margot R. F.; Yeung, Alison; Yntema, Helger G.; Borras, Silvia; Clark, Caroline; [...]

    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2020

    Published in: Nature