Results 11 to 20 of about 8,569 (185)

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome. [PDF]

Clin Genet
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Mingoia M, Meloni A, Sedda S, Choufani S, Asunis I, Gemma G, Ammendola A, Torabi-Marashi A, di Venere E, Squeo GM, Rallo V, Marini MG, Moi P, Savasta S, Weksberg R, Merla G, Angius A.   +16 more
europepmc   +2 more sources

Phenotype and animal domestication : A study of dental variation between domestic, wild, captive, hybrid and insular Sus scrofa [PDF]

, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work ...
Cucchi, Thomas, Dobney, Keith, Evin, Allowen, Larson, Greger, Owen, Joseph, Schafberg, Renate, Vidarsdottir, Una   +6 more
core   +1 more source

Ancient west Eurasian ancestry in southern and eastern Africa [PDF]

, 2013
The history of southern Africa involved interactions between indigenous hunter-gatherers and a range of populations that moved into the region. Here we use genome-wide genetic data to show that there are at least two admixture events in the history of ...
Berger, Bonnie, Lipson, Mark, Loh, Po-Ru, Pakendorf, Brigitte, Patterson, Nick, Pickrell, Joseph K., Reich, David, Stoneking, Mark   +7 more
core   +5 more sources

Non sappiamo come scriverlo, perciò non lo parliamo: mille e una scusa per un suicidio linguistico

Rhesis, 2012
In this paper, I discuss the situation of Sardinian against the background of the massive on-going language extinction, which has long being recognized as a major problem for the world cultural heritage.
Michele Loporcaro
doaj   +1 more source

Residues and Extensions of Perfective Auxiliary be: Modal Conditioning

Languages, 2022
This article provides both a diachronic and synchronic account of the generalization of perfective auxiliary be in specific irrealis modal contexts across numerous Romance varieties spoken in Italy and more widely within the Romània, which has ...
Adam Ledgeway
doaj   +1 more source

Notes and updates on language contact between Sardinian and Italian/French: A corpus-driven analysis

Italian Journal of Linguistics, 2023
This contribution provides a description of language contact phenomena of heritage Sardinian in migration contexts. The analysis takes into account original data collected in the period 2008-2010 among Sardinian communities of immigrants in continental Italy and France.
Pisano, Simone, Piunno, Valentina, Ganfi, Vittorio   +2 more
openaire   +3 more sources

Linguistic and cognitive skills in Sardinian-Italian bilingual children

Frontiers in Psychology, 2015
We report the results of a study which tested receptive Italian grammatical competence and general cognitive abilities in bilingual Italian-Sardinian children and age-matched monolingual Italian children attending the first and second year of primary ...
Maria eGarraffa, Madeleine eBeveridge, Antonella eSorace   +2 more
doaj   +1 more source

Arrègulas: Oral Poetry and Minority Language Standardisation

Quaderni di Linguistica e Studi Orientali, 2019
Arrègulas is a proposal for the standardisation of Campidanese Sardinian approved by the Province of Cagliari, in 2009. It began as a reaction to the promotion by the Autonomous Region of Sardinia of one Logudorese-based standard language (Limba Sarda ...
Rosangela Lai
doaj   +1 more source

The Genetic Variability of Present-Day Bulgarians Captures Ancient and Recent Ancestral Contributions. [PDF]

Am J Biol Anthropol
ABSTRACT Objectives Thanks to its pivotal crossroad position, Bulgaria played a fundamental key role during all the migration processes that interested the continent through time. While the genetic variability of the country has been deeply investigated using uniparental markers, previous genome‐wide autosomal‐based surveys mainly consisted of wider ...
Sarno S, Piccini F, Abondio P, Cilli E, Kuyumdjian EM, Dimitrov NA, Dilov CD, De Fanti S, Ciani G, Gentilini D, Boattini A, Sazzini M, Pettener D, Luiselli D.   +13 more
europepmc   +2 more sources

Ethnopedology in the study of toponyms connected to the indigenous knowledge on soil resource. [PDF]

PLoS ONE, 2015
In taking an integrated ethnopedological approach, this study aims to investigate the meaning of the distribution of the toponyms used in traditional and recent cartography of Sardinia (southern Italy).
Gian Franco Capra, Antonio Ganga, Andrea Buondonno, Eleonora Grilli, Carla Gaviano, Sergio Vacca   +5 more
doaj   +1 more source