The University of Edinburgh

Edinburgh, Scotland, United Kingdom

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School of GeoSciences
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School of Informatics
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School of Biological Sciences
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    ABSTRACT: Narrow-bore instruments are commonly perceived to be brighter than wide-bore models of the same kind of instrument. This effect is closely related to the effect of the bore profile of a brass instrument on the potential for non-linear propagation of sound within the tube. This paper reports on practical tests with trumpets of different bore diameters, experiments with loudspeaker excitation of instruments, and simulations. The brassiness curves of a range of low instruments with similar Brassiness Potential but differing in their absolute bore diameters are compared. The relative importance of the two effects is explored.
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    ABSTRACT: 15 high-functioning school aged children with ASD and 15 neurotypically developing age matched controls were assessed using the WISC-IV and the KABC-II in order to assess whether the WISC-IV has rectified problems associated with the WISC-III's undue emphasis on timing measures. No significant group differences were found for the PRI sub-scale of the WISC-IV nor for the nonverbal scale of the KABC-II, but the ASD group scored significantly lower than controls on the Processing Speed Index of the WISC-IV. This supports the need to isolate of timing criteria when IQ testing in populations with ASD, as is now the case with the WISC-IV. However significantly higher scores were obtained for the KABC-II versus the PRI for children with ASD only. The reasons for this are discussed with regard to a possible cultural bias in the Picture Concepts subtest of the WISC-IV.
    Research in Autism Spectrum Disorders 09/2014; 8(9):1200–1207.
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    ABSTRACT: BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. METHODS: We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. RESULTS: Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were i
    J.Med.Genet. 08/2014;


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