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Four-year follow-up of diagnostic service in USH1 patients.
Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21436283
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ.
Schrauwen I, et al.
Am J Med Genet A. 2013 Jan;161A(1):145-52. doi: 10.1002/ajmg.a.35737. Epub 2012 Dec 3.
Am J Med Genet A. 2013.
PMID: 23208854
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