Diagnostic Genome Profiling in Mental Retardation

Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping has a resolution of 5–10 million bases and detects chromosomal alterations in ∼5% of individuals with unexplained MR. The frequency of smaller submicroscopic chromosomal alterations in these patients is unkno...

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Auteurs principaux: de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2005
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275609/
https://ncbi.nlm.nih.gov/pubmed/16175506
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