Results 191 to 200 of about 118,918 (257)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

[A study on heart sound classification algorithm based on improved Mel-frequency cepstrum coefficient feature extraction and deep Transformer]. [PDF]

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi
Meng X, Zhang S.
europepmc   +1 more source

Australian Activists as Storytellers in Digital Spaces: Acquiring Skills, Producing Content and Getting the Message Out

Australian Journal of Social Issues, EarlyView.
ABSTRACT As modes of activism rapidly evolve, activists—both seasoned and emerging—must increasingly navigate a hybrid terrain of both digital and non‐digital engagement. This paper draws on the personal narratives of 16 nascent activists based in Australia to explore how they develop competencies related to digital storytelling, which is critical to ...
Garth Stahl, Miri Yemini, Claire Maxwell, Yating Hu, Benjamin Adams, Sarah Bergen   +5 more
wiley   +1 more source

Coherent Feature Extraction with Swarm Intelligence Based Hybrid Adaboost Weighted ELM Classification for Snoring Sound Classification. [PDF]

Diagnostics (Basel)
Prabhakar SK, Rajaguru H, Won DO.
europepmc   +1 more source

Beyond Consultation: A Scoping Review of Guidance for Organisations Practicing Inclusive Research and Co‐Production With People With Cognitive Disability in the Australian Context

Australian Journal of Social Issues, EarlyView.
ABSTRACT Participatory approaches such as inclusive research and co‐production are recognised as best practice in disability research and service design. These approaches promote inclusion and improve the relevance, quality, and impact of research and services.
Jacinta Oakley, Em Bould, Natasha Layton
wiley   +1 more source

Noncanonical Peloruside A Biosynthesis by an Uncultivated Verrucomicrobiota Symbiont

Angewandte Chemie, EarlyView.
Noncanonical biochemistry of the peloruside PKS characterized in this work, comprising double bond generation by a noncanonical tridomain (blue), acetyl‐CoA recycling (orange), and proofreading systems (purple and yellow). The Z‐double bond is installed by TEB1 through O‐acetylation and acetate elimination. The acyl ligase PelB (AL, orange) selectively
Amy E. Fraley, Michael Rust, Moritz Wagner, Ida R. Hipfinger, Paul J. N. Böhm, Cora L. Dieterich, Christopher M. Field, Michael J. Page, Jeremy G. Owen, Robert A. Keyzers, Shinichi Sunagawa, Jörn Piel   +11 more
wiley   +2 more sources

Shadow Infrastructures of Labour: A Case Study of Generative AI Use in Victorian Child Protection Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Generative Artificial Intelligence (GenAI) tools such as ChatGPT are rapidly entering workplaces, yet their use in frontline human services remains largely undocumented and weakly regulated. Drawing on an investigation into a child protection worker's informal use of ChatGPT, this article provides insight into how GenAI is already shaping ...
Joel Robert McGregor, Linus Tan, Caleb Lloyd, Abigail Sheed   +3 more
wiley   +1 more source

A Comparative Study of Preprocessing and Model Compression Techniques in Deep Learning for Forest Sound Classification. [PDF]

Sensors (Basel)
Paranayapa T, Ranasinghe P, Ranmal D, Meedeniya D, Perera C.   +4 more
europepmc   +1 more source

Advancing Understanding of Subjective Liveability for People With Disability

Australian Journal of Social Issues, EarlyView.
ABSTRACT Modern liveability frameworks aim to enhance health and well‐being through equity‐based measures across built, natural, social, and economic environments, yet they often overlook the perspectives of people with disability. This study explored expectations of liveable neighbourhoods among adults with diverse disability experiences in urban and ...
Maria Hobbs, Kim Jose, Ceridwen Owen, Verity Cleland   +3 more
wiley   +1 more source