Výsledky vyhledávání - Elles, Rob

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  1. 1
    Integrated regional genetic services: current and future provision

    Integrated regional genetic services: current and future provision Autor Donnai, Dian, Elles, Rob

    Vydáno 2001
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  2. 2
    COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

    COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia Autor Kennedy, Jason, Jackson, Gail, Ramsden, Simon, Taylor, Jacky, Newman, William, Wright, Michael J, Donnai, Dian, Elles, Rob, Briggs, Michael D

    Vydáno 2005
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  3. 3
    Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

    Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes Autor Boyle, Jennifer, Hawkins, Malcolm, Barton, David E, Meaney, Karen, Guitart, Miriam, O'Grady, Anna, Tobi, Simon, Ramsden, Simon C, Elles, Rob, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

    Vydáno 2011
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  4. 4
    Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

    Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome Autor Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'Grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie, Burns, Chris, Stacey, Glyn, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

    Vydáno 2011
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  5. 5
    Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

    Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome Autor Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'Grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie, Burns, Chris, Stacey, Glyn, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

    Vydáno 2013
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  6. 6
    Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

    Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia Autor Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D

    Vydáno 2006
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  7. 7
    Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

    Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate A... Autor Jackson, Gail C, Mittaz-Crettol, Laureane, Taylor, Jacqueline A, Mortier, Geert R, Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M, Offiah, Amaka, Wright, Michael J, Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C, Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D

    Vydáno 2012
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