Results 111 to 120 of about 1,671 (264)

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

LGBT* People in the Speeches of Italian and British PMs: a CorpusAssisted Critical Discourse Analysis

Critical Approaches to Discourse Analysis across Disciplines, 2019
The present study aims to investigate current trends in the representation of LGBT* people within the speeches of British and Italian PMs. Considered the formulaic nature of PMs’ institutional interventions and their social resonance, the objective is to
Carmen Serena Santonocito
doaj  

Legitimizing Energy Transition in China: Governance Shifts and Media Representations Across Two Decades

SAGE Open
This study investigates how the legitimacy of new energy development has been constructed in China over the past 2 decades through evolving governance strategies and media representations. Drawing on corpus-assisted discourse analysis of English-language
Renping Liu, Cheng Chen
doaj   +1 more source

From cross-linguistic to intersectional corpus-assisted discourse studies

Journal of Corpora and Discourse Studies
Ten years ago, I highlighted challenges arising from the application of CADS to  multilingual datasets in an approach called “cross-linguistic corpus-assisted discourse studies” (Vessey, 2013). In the intervening years, the notions of superdiversity and translanguaging have been largely transformative in the fields of applied and sociolinguistics ...
openaire   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Analysing Modality in Nairalanders’ Discourse on the Non-Passage of the Gender Equality Bill in Nigeria

The Journal of Studies in Language, Culture and Society
The successive rebuttal of the Gender and Equality Opportunity Bill (henceforth, GEO Bill) by members of the upper chamber of Nigeria’s legislature has become a discourse object of scholarly enquiry in (non)Nigerian academia. Scholars across disciplines
Adetutu Aragbuwa
doaj  

Morphophysiological dynamics of the proximal post‐testicular ducts in Crotalus durissus Linnaeus, 1758 (Squamata: Viperidae)

The Anatomical Record, EarlyView.
Abstract The organization and function of reptilian excurrent ducts remain poorly characterized, particularly in Neotropical snakes. We provide the first integrative morphological, histochemical, immunohistochemical, and ultrastructural analysis of the proximal post‐testicular ducts of Crotalus durissus across reproductive stages.
Flávia Cappuccio de Resende, Gustavo Caldeira Cotta, Clara d' Ávila Fonseca Paiva de Paula Freitas, Leonardo Carvalho, Heloísa Helena Marques Oliveira, Victória Gomes Carvalho Silva, Lívia de Fátima Moreira Silva, Luciana Maria Silva, Samyra Maria dos Santos Nassif Lacerda, Guilherme Mattos Jardim Costa   +9 more
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source