The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Autor: Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin

Publikováno v: Molecular Syndromology; Sep2015, Vol. 6 Issue 3, p135-140, 6p

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Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Autor: Zilina O; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu Tartu, Estonia., Teek R; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Pediatrics, University of Tartu Tartu, Estonia., Tammur P; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia., Kuuse K; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia., Yakoreva M; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Biomedicine, Institute of Biomedicine and Translation Medicine, University of Tartu Tartu, Estonia., Vaidla E; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia., Mölter-Väär T; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia., Reimand T; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Pediatrics, University of Tartu Tartu, Estonia ; Department of Biomedicine, Institute of Biomedicine and Translation Medicine, University of Tartu Tartu, Estonia., Kurg A; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu Tartu, Estonia., Ounap K; Department of Genetics, United Laboratories, Tartu University Hospital Tartu, Estonia ; Department of Pediatrics, University of Tartu Tartu, Estonia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2014 Mar; Vol. 2 (2), pp. 166-75. Date of Electronic Publication: 2014 Jan 09.