Resultados da pesquisa - Elles, Rob

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