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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...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Pajusalu, Sander, Žilina, Olga, Yakoreva, Maria, Tammur, Pille, Kuuse, Kati, Mölter-Väär, Triin, Nõukas, Margit, Reimand, Tiia, Õunap, Katrin
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
Assuntos:
Acesso em linha: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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