Results 121 to 130 of about 213,157 (286)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +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

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, Jennifer Smith‐Merry, Kuo‐yi Jade Chang   +2 more
wiley   +1 more source

Beyond Robodebt: Media Representations of Welfare and Fraud Before and After the Robodebt Royal Commission

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, Georgia van Toorn   +1 more
wiley   +1 more source

Using CORPORA in the Language Learning Classroom: Corpus Linguistics for Teachers

Language Value, 2018
Reviewed by Nur Yigitoglu Department of Applied Linguistics and ESL Georgia State University, USA   The interest in using corpora and corpus-based materials in language teaching and research continues to grow.
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Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

“Hands‐On” white matter anatomy: Using Air Anatomy gestures and tractography on simple brain sections to enhance teaching of white matter directions

Anatomical Sciences Education, EarlyView.
Abstract Teaching white matter (WM) anatomy to undergraduates is challenging. This is partly because WM fibers are oriented intricately and Klingler's dissection, the gold standard method used to demonstrate it, often requires time, advanced anatomical knowledge, and refined dissection skills.
Doris George Yohannan, Rohini Punja, Thomas Iype, Chandrasekharan Kesavadas, Bejoy Thomas, Kannanvilakom Govindapillai Umesan, Aswathy Maria Oommen, Usha Devi Keezhathil Bhargavi   +7 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Show Me the Brain!!: A modern approach to neuroanatomy education

Anatomical Sciences Education, EarlyView.
Abstract Show Me the Brain!! (SMtB) is a digital system for interactive graphics that is designed to support instruction in neuroanatomy and neuroscience. It will soon be made open‐source and freely available. SMtB bridges medical and traditional neuroanatomy instruction with the computational systems and representational conventions common in ...
Nicholas C. Hindy, Anthony J. Bishara, Ellie Lovellette, John R. Pani   +3 more
wiley   +1 more source

Integrating yoga into anatomy and clinical medicine education: A holistic approach to learning

Anatomical Sciences Education, EarlyView.
Abstract Anatomical knowledge is fundamental for success in clinical settings. Unfortunately, anatomy education within professional health programs has experienced a continual decrease in contact hours and curricular content over the previous two decades, leading to deficits and potential gaps in anatomical science knowledge.
Dana Rohde, Madeleine E. Norris, Jennifer R. Kinder, Barbie Klein, Derek Harmon   +4 more
wiley   +1 more source