Showing 1 - 6 results of 6 for search 'Panagiotis I. Sergouniotis', query time: 0.43s
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From genetic variation to precision medicine by Panagiotis I. Sergouniotis, Tomas Fitzgerald, Ewan Birney
Published 2023-01-01
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Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome e... by Jingshu Liu, Graeme C. Black, Susan J. Kimber, Panagiotis I. Sergouniotis
Published 2022-10-01
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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy by Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
Published 2023-09-01
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The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis by Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C. Black, Susmito Biswas, Jane L. Ashworth, Panagiotis I. Sergouniotis
Published 2023-03-01
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data by Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley
Published 2020-04-01
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