Results 141 to 150 of about 12,778 (300)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

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

Controlled vocabularies and ontologies in proteomics: overview, principles and practice. [PDF]

open access: yesBiochim Biophys Acta, 2014
Mayer G   +12 more
europepmc   +1 more source

Controlled Vocabularies versus Social Tags: A Brief Literature Review

open access: yes, 2019
The present study is a literature review, based on the comparative study between controlled vocabularies and social tags from various perspectives.
Bhattacharya, Udayan   +2 more
core  

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn   +4 more
wiley   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi   +6 more
wiley   +1 more source

Do users benefit from controlled vocabularies in search interfaces?

open access: yes, 2015
Search providers in domains from medicine to news have long labelled documents with controlled vocabularies, to help users explore their collections.
Schmakeit, Jan-Felix   +3 more
core  

Controlled vocabulary with Vocabs

open access: yes
PDF version of the slides from the presentation "Controlled vocabulary with Vocabs". Presented online on 21 October 2025 in the context of the Community Cluster "Authority Files and Community-driven Vocabularies" meeting of NFDI4Objects.
Carloni, Massimiliano, Trognitz, Martina
openaire   +1 more source

Categories in Controlled Vocabularies : A critique from a pragmatic perspective

open access: yes, 2020
Subject description is a linguistic practice, and therefore all controlled vocabularies are built upon theories of language. However, the underlying theories are rarely discussed in greater length.
Hed, Anna
core  

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