Exact(10)
Known and predicted genes within an aberration are listed in the DECIPHER patient report, and genes of recognized clinical importance are highlighted and prioritized.
Intellectual disability and hypertelorism are shared phenotypes with patient 255428 in the Decipher database with an overlapping duplication.
Five cases with 19q13.11 deletion have been published with two additional ones present in the DECIPHER database (patients 127 and 3776).
Barcode sequences are 18 nucleotide-long DNA sequences that are unique for each of the 27,500 shRNA expression constructs in the DECIPHER library pool.
Many new genomic disorders caused by submicroscopic duplications and deletions continue to be described and are catalogued in the DECIPHER database [ 132].
This assumption is based on heterozygous female carriers previously being described as healthy and also large deletions encompassing the NAA10 gene being documented in the DECIPHER database in females with intellectual disability as phenotype when reported.
Similar(50)
Clinical issue This study is embedded in the Deciphering the Mechanisms of Developmental Disorders (DMDD) project.
While methylation, acetylation, and ubiquitination have a role in many protein classes, major interest has developed in their role in the deciphering of the human "histone code".
Given the difficulty in deciphering the material, was it appropriate to sell precipice bonds in this was to a vulnerable audience?
Alan Turing was not to see the coming revolution in modern biology, or the advances of neuroscience in deciphering the workings of the brain.
In fact, both negative and positive correlations have been observed [41], [43], complicating the effort in deciphering the effect of these SNPs on FTO expression.
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