Browsing 2016 RD&E publications by Issue Date
Now showing items 1-20 of 412
-
Genetic Elucidation of Nonsyndromic Hearing Loss in the High-Throughput Sequencing Era
(Karger, 2016)Hereditary hearing loss is a classic genetically heterogeneous condition with nearly 100 nonsyndromic hearing loss genes currently described and many more awaiting discovery. Priorities in the field with potentially rapid ... -
Toe-to-hand transfer
(McGraw Hill, 2016) -
Practice guidelines for Sanger Sequencing Analysis and Interpretation
(Association for Clinical Genetic Science, 2016) -
KCNJ11 mutations cause sever neuropsychological deficits
(BMJ, 2016)KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in brain regions including the hypothalamus, neocortex and cerebellum. Its neurological function is uncertain. KCNJ11 activating ... -
An epigenome-wide association meta-analysis of prenatal maternal stress in neonates: A model approach for replication.
(Taylor & Francis, 2016)Prenatal maternal stress exposure has been associated with neonatal differential DNA methylation. However, the available evidence in humans is largely based on candidate gene methylation studies, where only a few CpG sites ... -
Oedema management in a diabetic patient with foot ulceration and peripheral vascular disease: a case study
(SB Communications Group, 2016)Peripheral oedema is a recognised complication in prolonging wound healing. Despite this, there is little evidence available on the use of compression therapy in the presence of diabetic foot disease. The case study outlined ... -
Identification of cancer associated molecular changes in histologically benign vulval disease found in association with vulval squamous cell carcinoma using Fourier transform infrared spectroscopy
(Royal Society of Chemistry, 2016)This study evaluates the capability of Fourier transform infrared spectroscopy (FTIR-S) in the differentiation of molecular changes in vulval intraepithelial neoplasia (VIN) and lichen sclerosus (LS) found in association ... -
Effectiveness of voice therapy for functional voice disorders
(Compton Publishing, 2016) -
Waterlow score as a surrogate marker for predicting adverse outcome in acute pancreatitis.
(Royal College of Surgeons, 2016-01)Introduction Introduced originally to stratify risk for developing decubitus ulcers, the Waterlow scoring system is recorded routinely for surgical admissions. It is a composite score, reflecting patients' general condition ... -
Maternal hypothyroxinaemia in pregnancy is associated with obesity and adverse maternal metabolic parameters.
(BioScientifica, 2016-01)Subclinical hypothyroidism and isolated hypothyroxinaemia in pregnancy have been associated with an increased risk of gestational diabetes. We aimed to ascertain if these women have a worse metabolic phenotype than euthyroid ... -
The proposed use of radiofrequency ablation for the treatment of fistula-in-ano.
(Elsevier, 2016-01)Fistula in ano is a very common presentation to colorectal clinic. Embarrassment due to the symptoms makes accurate estimations of incidence difficult. It is estimated that up to 40% of peri-anal abscess will be accompanied ...