Hakutulokset - Elles, Rob

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

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

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes Tekijä 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

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome Tekijä 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

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome Tekijä 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

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia Tekijä 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

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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... Tekijä 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

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