Results 171 to 180 of about 6,752,460 (289)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Open-vocabulary Keyword Spotting with Hyper-Matched Filters for Small Footprint Devices. [PDF]

Comput Speech Lang
Segal-Feldman Y, Bradlow AR, Goldrick M, Keshet J.   +3 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A data-driven method for research trend analysis in a scientific discipline: Application to the journal of biomedical informatics. [PDF]

J Biomed Inform
Fang Y, Zhang G, Tejada SS, Chen F, Shortliffe E, Patel VL, Peleg M, Weng C.   +7 more
europepmc   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

Angewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

Worldwide research tendencies on natural orifice transluminal endoscopic surgery: a bibliometric analysis. [PDF]

Front Surg
Zou JX, Geng Y.
europepmc   +1 more source

Appendix JSTMC Vol.19 No.1 June 2018 : Author Index & Keyword Index

Jurnal Sains & Teknologi Modifikasi Cuaca, 2018
openaire   +3 more sources

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