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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.
Eur J Hum Genet. 2014.
PMID: 23591405
Free PMC article.
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C, García-García G, Jaijo T, Fornés N, Ayuso C, Fernández-Burriel M, Sánchez-De la Morena A, Aller E, Millán JM.
Fuster-García C, et al.
Sci Rep. 2018 Nov 20;8(1):17113. doi: 10.1038/s41598-018-35085-0.
Sci Rep. 2018.
PMID: 30459346
Free PMC article.
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