/manager/Index ${session.getAttribute("locale")} 5 A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology /manager/Repository/uon:7144 Sat 24 Mar 2018 08:34:14 AEDT ]]> CCDC22: a novel candidate gene for syndromic X-linked intellectual disability /manager/Repository/uon:21646 1-3 yet a large proportion of XLID cases remain unexplained, as each of the XLID genes identified so far only accounts for a small fraction (<1%) of affected individuals. Given that about one third of mutations affect gene expression levels,4 we reasoned that transcriptome profiling of lymphoblast cell lines from XLID patients may highlight genes harboring disease-causing mutations and may be an efficient follow-up method for rare sequence variants of unknown functional significance.]]> Sat 24 Mar 2018 07:52:23 AEDT ]]>