Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study - Kristina Ibañez, James Polke, R. Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C. Daugherty, Dalia Kasperaviciute, Katherine R. Smith, Zandra C. Deans, Sue Hill, Tom Fowler, Richard H. Scott, John Hardy, Patrick F. Chinnery - Dissemin

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Elsevier, The Lancet Neurology, 3(21), p. 234-245, 2022

DOI: 10.1016/s1474-4422(21)00462-2

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Journal article published in 2022 by Kristina Ibañez, James Polke, R. Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C. Daugherty, Dalia Kasperaviciute, Katherine R. Smith, Zandra C. Deans, Sue Hill, Tom Fowler, Richard H. Scott, John Hardy, Patrick F. Chinnery and other authors.

This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

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