Results 101 to 110 of about 451,494 (340)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Linguistic Diversities of Demographic Groups in Twitter

open access: yes, 2017
The massive popularity of online social media provides a unique opportunity for researchers to study the linguistic characteristics and patterns of user's interactions.
Benevenuto, Fabricio   +3 more
core   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga   +36 more
wiley   +1 more source

Towards establishing a Major sociolinguistic Theory Interaction Between Content Interactions and Associative Affiliation

open access: yesالأستاذ, 2018
When sociolinguistic became the concern of linguists and sociologists alike, being a fertilized land for cultivation, the need became necessary to suggest a comprehensive sociolinguistic theory which deals with sociolinguistic research.
Asst.Prof.Dr. Nima Dahash Farhan Al-Tae
doaj   +1 more source

The Rhetorical Discourse Revealing The Indonesians Characters [PDF]

open access: yes, 2017
Indonesia comprises of many tribes and language spreading all over its islands from Sabang to Merauki. The tribes and their languages are unique symbolizing that they are heterogeneous society who live in a place named Indonesia.
Muqit, Abd
core  

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong   +4 more
wiley   +1 more source

From Statistical to Geolinguistic Data: Mapping and Measuring Linguistic Diversity [PDF]

open access: yes
The aim of this paper is describing a new methodology for mapping and measuring linguistic diversity in a territory. The three methods that have been created by the Centro di eccellenza della ricerca Osservatorio linguistico permanente dell’italiano ...
Monica Barni
core  

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

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