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Now showing items 101-108 of 108
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
(2017-03)
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed ...
7p22.1 microduplication syndrome: Refinement of the critical region.
(2017-02)
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
(2018)
Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, ...
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
(2019-08)
OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...
The effects & mechanisms of increasing running step rate: A feasibility study in a mixed-sex group of runners with patellofemoral pain.
(2018-07)
OBJECTIVES: To explore feasibility of recruitment and retention of runners with patellofemoral pain (PFP), before delivering a step rate intervention. DESIGN: Feasibility study. SETTING: Human performance laboratory. ...
American Society of Anesthesiologists Score: still useful after 60 years? Results of the EuSOS Study.
(2015)
OBJECTIVE: The European Surgical Outcomes Study described mortality following in-patient surgery. Several factors were identified that were able to predict poor outcomes in a multivariate analysis. These included age, ...
Arterial Remodeling After Bioresorbable Scaffolds and Metallic Stents.
(2017-07-04)
BACKGROUND: Although previous observational studies have documented late luminal enlargement and expansive remodeling following implantation of a bioresorbable vascular scaffold (BVS), no comparison with metallic stents ...
Coronary microvascular dysfunction in patients with stable coronary artery disease: The CE-MARC 2 coronary physiology sub-study.
(2018-09-01)
BACKGROUND: In patients with angina undergoing invasive management, no obstructive coronary artery disease (NOCAD) is a common finding, and angina may persist following percutaneous coronary intervention (PCI). Coronary ...