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

We present data from our clinical department's experience with chromosomal microarray analysis (CMA) regarding the diagnostic utility of 1 or 2 long contiguous stretches of homozygosity (LCSHs) in an outbred population. The study group consisted of 2,110 consecutive patients from 2011 to 2014 f...

詳細記述

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書誌詳細
出版年:Mol Syndromol
主要な著者: Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698626/
https://ncbi.nlm.nih.gov/pubmed/26733775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000438776
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