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Article
Open AccessExon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres
In recent years, chromosomal microarrays have been widely adopted by clinical diagnostic laboratories for postnatal constitutional genome analysis and have been recommended as the first-line test for patients ...
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Article
Functional disomy resulting from duplications of distal Xq in four unrelated patients
Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated...
