https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 CCDC22: a novel candidate gene for syndromic X-linked intellectual disability https://ogma.newcastle.edu.au/vital/access/ /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 ]]> n of 1 trial for an ornithine transcarbamylase deficiency carrier https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4805 Sat 24 Mar 2018 07:20:43 AEDT ]]>