1. |
- Dunham, I, et al.
(author)
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The DNA sequence of human chromosome 22
- 1999
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 402:6761, s. 489-495
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Journal article (peer-reviewed)
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3. |
- Smith, R. J., et al.
(author)
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Clinical diagnosis of the Usher syndromes : Usher Syndrome Consortium
- 1994
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In: American Journal of Medical Genetics. - : Wiley. - 0148-7299 .- 1096-8628. ; 50:1, s. 32-38
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Journal article (peer-reviewed)abstract
- The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.
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