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Now showing items 101-110 of 111
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
(2017-11)
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and ...
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
(2016-07)
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...
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, ...
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, ...
A clinical and histopathological analysis of the anti-centromere antibody positive subset of primary Sjögren's syndrome.
(2018-05)
OBJECTIVES: ACA-positive/primary Sjögren's syndrome (pSS) represents a distinct overlapping entity with intermediate features in between limited systemic sclerosis (lSSc) and pSS. Few data are available on their general ...
Tumoural calcinosis in a young woman.
(2016-03)
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 ...