نتائج البحث - Ramsden, Simon C

FCI: an R-based algorithm for evaluating uncertainty of absolute real-time PCR quantification حسب Verderio, Paolo, Pizzamiglio, Sara, Gallo, Fabio, Ramsden, Simon C

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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes حسب Ramsden, Simon C, Clayton-Smith, Jill, Birch, Rachael, Buiting, Karin

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Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias حسب Briggs, Michael D, Brock, Joanne, Ramsden, Simon C, Bell, Peter A

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Clinical utility gene card for: Choroideremia حسب Moosajee, Mariya, Ramsden, Simon C, Black, Graeme CM, Seabra, Miguel C, Webster, Andrew R

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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes حسب Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz

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Improving the clinical interpretation of missense variants in X linked genes using structural analysis حسب Sallah, Shalaw Rassul, Ellingford, Jamie M, Sergouniotis, Panagiotis I, Ramsden, Simon C, Lench, Nicholas, Lovell, Simon C, Black, Graeme C

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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies) حسب Ramsden, Simon C, Davidson, Alice E, Leroy, Bart P, Moore, Anthony T, Webster, Andrew R, Black, Graeme C M, Manson, Forbes D C

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes حسب 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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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity حسب Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.

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Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa حسب Fischer, M. Dominik, McClements, Michelle E., Martinez-Fernandez de la Camara, Cristina, Bellingrath, Julia-Sophia, Dauletbekov, Daniyar, Ramsden, Simon C., Hickey, Doron G., Barnard, Alun R., MacLaren, Robert E.

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Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome حسب Ellingford, Jamie M, Sergouniotis, Panagiotis I, Lennon, Rachel, Bhaskar, Sanjeev, Williams, Simon G, Hillman, Kate A, O’Sullivan, James, Hall, Georgina, Ramsden, Simon C, Lloyd, I Christopher, Woolf, Adrian S, Black, Graeme C M

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome حسب 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 حسب 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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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease حسب Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.

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Validation of copy number variation analysis for next-generation sequencing diagnostics حسب Ellingford, Jamie M, Campbell, Christopher, Barton, Stephanie, Bhaskar, Sanjeev, Gupta, Saurabh, Taylor, Rachel L, Sergouniotis, Panagiotis I, Horn, Bradley, Lamb, Janine A, Michaelides, Michel, Webster, Andrew R, Newman, William G, Panda, Binay, Ramsden, Simon C, Black, Graeme CM

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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases حسب Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M

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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome حسب Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A

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Molecular findings from 537 individuals with inherited retinal disease حسب Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M

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Clinical and genetic variability in children with partial albinism حسب Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., Sergouniotis, Panagiotis I.

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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders حسب Lenassi, Eva, Clayton-Smith, Jill, Douzgou, Sofia, Ramsden, Simon C., Ingram, Stuart, Hall, Georgina, Hardcastle, Claire L., Fletcher, Tracy A., Taylor, Rachel L., Ellingford, Jamie M., Newman, William D., Fenerty, Cecilia, Sharma, Vinod, Lloyd, I. Chris, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C., Sergouniotis, Panagiotis I.

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