1,720,965 research outputs found
Adolescenza. Verso un approccio multidisciplinare
No full textIl volume riporta i risultati di una ricerca condotta da pediatri e sociologi ed esalta gli aspetti multidiciplinari delle analisi sulla condizone adolescenziale e giovanil
Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia).
No full textWolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
No full textOBJECTIVE— Wolfram syndrome is an autosomal recessive neurodegenerative disorder
characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a
set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of
chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier
frequency.
RESEARCH DESIGN AND METHODS— We evaluated six Italian children from five
unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification
and direct sequencing.
RESULTS— Mutation screening revealed five distinct variants, one novel mutation
(c.1346CT; p.T449I) and four previously described, all located in exon 8.
CONCLUSIONS— Phenotype-genotype correlation is difficult, and the same mutation
gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype
than mildly inactivating ones. Clinical follow-up showed the progressive syndrome’s
seriousness
Clinical and cytogenetic study of a case of trisomy 1q with familial translocation t(1;5)(q42;p15.3)
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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