4,667 research outputs found
La fotografia. Oggetto teorico e pratica sociale. Atti del XXXVII Congresso AISS - Laboratori
No full textA novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
No full textThe autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least
3 standard deviation below the mean.
The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree
of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly
(MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells.
We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including
microcephaly, refractory infantile spasms and intellectual disability. Genetic analysis detected a new homozygous splicing variant
c.3335+1G>C in the WD repeat domain 62 (WDR62) gene, inherited from both heterozygous healthy parents, and an additional
new heterozygous missense mutation c.1706T>A of G protein-coupled receptor 56 (GPR56) gene inherited from his healthy father. The study seeks to broaden the knowledge of clinical and electroclinical findings of MCPH2 and to contribute to a better characterization of the genotype-phenotype correlation
Arrangiamenti e compromessi del plurale nell'enunciazione fotografica
No full textDal 1972, quando presenta il progetto Esposizione in tempo reale n. 4 al Padiglione Italia della 36a Biennale di Venezia, Franco Vaccari lavora sulla fotografia come medium di innesco di eventi di enunciazione collettiva. Nella sala della sua personale Vaccari installa una cabina Photomatic, come se ne trovano negli spazi pubblici delle città, e affigge un cartello che incita i visitatori a lasciar traccia del loro passaggio. Il mandato dell’autoscatto (potenziale) al posto di una mostra fotografica provoca uno slittamento del concetto di “esposizione”. L’opera è diretta dall’artista, ma assunta ed eseguita dagli spettatori, in una flagranza del processo di semiosi. Qui l’istanza tracciante del discorso, che manipola e usa l’immagine, non è mai un soggetto singolo. Le tessere, disposte a mosaico, rendono conto, invece, del divenire dell’opera per via di contagi, emulazioni e conflitti tra posizioni enunciazionali, dove la stessa macchina è ora un aiutante ora un opponente. Si riflette sull’emergenza di questi aggiustamenti nelle dinamiche della fotografi
Transcriptomic Data Analysis Reveals a Down-Expression of Galectin-8 in Schizophrenia Hippocampus.
No full textInteractively using Semantic Web knowledge: Creating scalable abstractions with FacetOntology
No full textThe amount of knowledge accessible on the Semantic Web is growing, and there is a need for a scalable solution to facilitate exploring that data. Currently approaches to exploring Semantic Web data either focus on exploring resources individually, following links during exploration, and making little use of collated data, or take the approach of collating and aligning multiple sources into one store for one purpose, and hand-crafting a specific browsing interface onto it. We present an approach that provides a scalable browsing interface, which can browse knowledge from the Semantic Web at will. Our approach creates abstractions of knowledge, collated into facets, which are described using FacetOntology. FacetOntology facilitates describing facets from RDF data, suitable for use in creating datasets for faceted browsing
Matching matrix elements and shower evolution for top-quark production in hadronic collisions
No full textWe study the matching of multijet matrix elements and shower evolution in the case of top production in hadronic collisions at the Tevatron and at the LHC. We present the results of the matching algorithm implemented in the ALPGEN Monte Carlo generator, and compare them with results obtained at the parton level, and with the predictions of the MC@NLO approach. We highlight the consistency of the matching algorithm when applied to these final states, and the excellent agreement obtained with MC@NLO for most inclusive quantities. We nevertheless identify also a remarkable difference in the rapidity spectrum of the leading jet accompanying the top quark pair, and comment on the likely origin of this discrepancy
Growth Morphologies and Mechanisms of Non-Equilibrium Solidified MC Carbide
No full textGrowth morphologies and mechanisms of the carbide of group IVB and VB elements (MC carbide), a typical faceted crystal, were studied with an estimated cooling rate from 102 to 105 K/s. Results showed that although the growth morphologies of the MC carbide vary remarkably with solidification cooling rate, the solid/liquid interface is always atomically smooth, and the growth mechanisms are always lateral growth. The growth mechanism transition from lateral to continuous growth mode, which was predicted by the classic crystal growth theory, was not observed for the TiC type MC carbide within the estimated cooling rate range of 102?105 K/s
Ruth Klüger: la creatività per non “smarrirsi strada facendo”
No full textR. Klüger, a jewish viennese, a US citizen and a germanist, is the Author of two autobiographies “weiter leben”and “unterwegs versore”. Written in a style which alternates between essay and poetry, account and recollection, they are the occasion for the Author to establish a dialogue with the women having as a focus the exchange of experiences and reflections over the status of the feminine emancipation
Editoria di interesse ispanico in Sicilia nei secoli XVI e XVII
No full textBanca dati su catalogo on-line prodotto della ricerca PRIN 2008. La banca dati contiene circa 200 schede bibliografiche di esemplari del XVI e del XVII secolo di interesse ispanico pubblicate in Sicilia
Eutectic MC Carbide Growth Morphologies of a Laser Clad TiC/FeAl Composite Coating
No full textIn this paper, eutectic MC carbide growth morphology and its evolution with laser scanning speed were studied comprehensively of a laser clad MC carbide reinforced FeAl intermetallic matrix composite coating. As the laser scanning speed increased, the growth morphology of eutectic MC carbide was found to be needle-aligned annulation, butterfly-like and well-developed dendrite
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