Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations

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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements_ analysis of 383 patients, literature review and further recommendations..pdf (183.34 KB)

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2016

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Artículo

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Artículos Medicina y Ciencias de la Salud

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44

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1
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Polish Academy of Sciences with Springer International Publishing AG,

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http://hdl.handle.net/11447/270
 http://dx.doi.org/10.1007/s13353-015-0295-4

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Abstract

Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available...

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Citation

Journal of Applied Genetics, February 2016, vol. 57, n°1, p. 63-69

Keywords

Intellectual disability , Global development delay , Subtelomeric rearrangements , Fluorescence in situ hybridisation , Multiplex ligation-dependent probe amplification

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