Results 151 to 160 of about 2,815,445 (292)

Empowering Biomedical Research with Foundation Models in Computational Microscopy: A Systematic Review

Advanced Intelligent Systems, EarlyView.
The integration of foundation models into computational microscopy revolutionizes biomedical research by enhancing imaging resolution, accelerating data analysis, and enabling real‐time biological interpretation. This systematic review critically examines recent advancements, highlights translational challenges, and discusses the transformative ...
Di Ding, Tianliang Yao, Genyi Feng, Xueqing Gao, Xusen Sun, Rong Luo   +5 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Defining environmental river flow requirements ? a review

, 2004
International audienceAround the world, there is an increasing desire, supported by national and regional policies and legislation, to conserve or restore the ecological health and functioning of rivers and their associated wetlands for human use and ...
Acreman, M. C., Dunbar, M. J.
core   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Integrity Versus Ideology in Automated Assessment: The Jobseeker Snapshot

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article analyses the entanglement of political ideology and digitalisation in the Australian approach to online assessment of claims for income security, with a focus on job seeker classification. In the Australian social security system, the Job Seeker Classification Instrument (JSCI) has been used to screen and ‘score’ income security ...
Angelika Papadopoulos
wiley   +1 more source

Aboriginal and Torres Strait Islander Perspectives in Drinking Water Policy: A Realist Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander cultures have a deep, enduring connection to water. However, since Australia's colonisation in 1788, water management has shifted, creating ongoing issues for these communities. Notwithstanding the universal recognition of safe drinking water as a human right, significant inequities persist, particularly ...
Margaret Apolima Fono, Felicity Chapman, Vita Christie, Carmen Parter, Jodi Knight, Simone Sherriff, Uncle Boe Rambaldini, Bradley Moggridge, Kylie Gwynne   +8 more
wiley   +1 more source

Australia's Wellbeing Framework: Is It Really ‘Measuring What Matters’?

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's newly established wellbeing framework, ‘Measuring What Matters’ (MWM), seeks to measure social progress and influence policy by reporting on 50 wellbeing indicators within five ‘themes’. In this article, we assess whether the MWM framework adequately measures what people in Australia value for their wellbeing by examining both the ...
Kate Sollis, Paul Campbell, Nicholas Drake   +2 more
wiley   +1 more source

A Multimodal Database for Affect Recognition and Implicit Tagging

IEEE Transactions on Affective Computing, 2012
M. Soleymani, J. Lichtenauer, T. Pun, M. Pantic   +3 more
semanticscholar   +1 more source