Results 121 to 130 of about 46,925 (295)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

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

American 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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Vocabulary control of internet resources

Arnab Dey
openalex   +2 more sources

A controlled vocabulary for research and innovation in the field of Artificial Intelligence (AI)

, 2021
Nicolau Durán-Silva, Enric Fuster, Francesco Alessandro Massucci, César Parra‐Rojas, Arnau Quinquillà, Fernando Roda, Bernardo Rondelli   +6 more
openalex   +1 more source

Desenvolvimento de um vocabulário controlado na biblioteca do Senado Federal

Ciência da Informação, 1986
O Vocabulário Controlado Básico (VCB), utilizado para a indexação dos registros bibliográficos da rede de bibliotecas coordenada pela Biblioteca do Senado Federal, foi desenvolvido para compatibilizaras duas linguagens de indexação existentes na ...
Maria Lúcia Vilar de Lemos
doaj  

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian 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

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

Australian 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, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

The Impact of Using Animated Movies in Learning English Language Vocabulary: An Empirical Study of Lahore, Pakistan

SAGE Open
This study examines the effectiveness of animated movies (AM) in increasing students’ vocabulary and determines what students think about English language learning in Pakistan.
Muhammad Younas, Yan Dong
doaj   +1 more source

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

Animal 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, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source

Controlled vocabulary with Vocabs

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