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Array CGH in patients with developmental delay or intellectual disability : are there phenotypic clues to pathogenic copy number variants?
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Array CGH in patients with developmental delay or intellectual disability : are there phenotypic clues to pathogenic copy number variants?
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Bibliographic description
title:
Array CGH in patients with developmental delay or intellectual disability : are there phenotypic clues to pathogenic copy number variants?
author:
Shoukier Moneef, Klein Nikolas, Auber Bernd, Wickert Julia, Schröder Julia, Zoll Barbara, Burfeind Peter, Bartels Iris, Alsat Ea A., Lingen Michael, Grzmil Paweł
, Schulze Sandra, Keyser Johanna, Weise Dagmar, Borchers M., Hobbiebrunken Elke, Röbl Marcus, Gartner Jutta, Brockmann Knut, Zirn Birgit
journal title:
Clinical Genetics
volume:
83
issue:
1
date of publication :
2013
pages:
53-65
ISSN:
0009-9163
eISSN:
1399-0004
DOI:
10.1111/j.1399-0004.2012.01850.x
notes:
Bibliogr. s. 64-65
language:
English
journal language:
English
keywords in English:
array comparative genomic hybridization, copy number variants, developmental delay, intellectual disability, microdeletion syndromes, microduplication syndromes
affiliation:
Wydział Biologii i Nauk o Ziemi : Instytut Zoologii
type:
journal article
subtype:
academic paper
punktacja MEiN [2013 A]: 30
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