Results 181 to 190 of about 24,257,809 (325)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
An Arabic Corpus of Fake News: Collection, Analysis and Classification
International Colloquium on Automata, Languages and Programming, 2019 Maysoon Alkhair +3 more
semanticscholar +1 more source
Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone +8 more
wiley +1 more source
Contrastive corpus analysis of cross-linguistic asymmetries in concessive conditionals [PDF]
, 2010 Defrancq, Bart
core +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 +13 more
wiley +1 more source
Corpus Analysis and Lexical Pragmatics: An Overview
, 2014 P. Kolaiti, Deirdre Wilson
semanticscholar +1 more source
The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa +2 more
wiley +1 more source
Evidentials, politeness and prosody in Spanish: A corpus analysis
, 2014 María Estellés Arguedas +1 more
semanticscholar +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Australia's Robodebt scheme, an automated debt recovery program introduced in 2016, was exposed by the Robodebt Royal Commission (RC) as a serious failure of public administration and source of significant harm for thousands of Australians. Through a critical discourse analysis (CDA) of Australian news media, this study explores whether the RC'
Rebecca Coleman‐Hicks +1 more
wiley +1 more source