Results 301 to 310 of about 7,572,211 (397)

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

The utility of genomic data for Plasmodium vivax population surveillance. [PDF]

Pathog Glob Health, 2015
Daniels RF, Rice BL, Daniels NM, Volkman SK, Hartl DL.   +4 more
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Robo‐compliance in Australian employment services

Australian Journal of Social Issues, EarlyView.
Abstract Since the late 1990s, Australia's employment services have enforced mutual obligation compliance as part of a transition to a disciplinary regime of conditional welfare. In recent years, the digitisation of employment services has extended the disciplinary approach to self‐activation.
Simone Casey
wiley   +1 more source

Establishment of a surveillance system (utilising Midwifes Data Collection Systems) for monitoring the impact of hepatitis B vaccination on the population prevalence of chronic hepatitis B virus infection in Australia

, 2008
Nicholas Wood, Margaret Warlow, Helen Quinn, Christine Selvey, Gary Lum, Peter McIntyre, John Kaldor   +6 more
openalex   +1 more source

Beyond administrative burden: Activation and administrative harm

Australian Journal of Social Issues, EarlyView.
Abstract Within recent public policy and administration scholarship, there has been a growing focus on the concept of “administrative burden” to describe the learning, compliance and psychological costs incurred by citizens when trying to access services and exercise social and political rights. Specifically, in the context of activation and welfare‐to‐
Michael McGann, Sarah Ball
wiley   +1 more source

Use of computerised general practice data for population surveillance: comparative study of influenza data.

British medical journal, 1991
Neil Johnson, D. Mant, L. Jones, T. Randall, OX2 6HE   +4 more
semanticscholar   +1 more source

How is therapeutic residential care constructed within key policy documents ?

Australian Journal of Social Issues, EarlyView.
Abstract Therapeutic residential care (TRC) is a mode of delivering out‐of‐home care (OOHC) that can help meet the needs of some of Australia's most vulnerable young people and their families. TRC programmes aim to support young people to develop positive relationship experiences in a safe and stable environment.
Lynne McPherson, Antonia Canosa, Kathomi Gatwiri, Donnah Anderson, Kylie Day, Robbie Gilligan, Anne Graham, Janise Mitchell, Tim Moore, Meaghan Vosz   +9 more
wiley   +1 more source

Population-based Surveillance for Hepatitis C Virus, United States, 2006–2007

, 2009
R. Monina Klevens, Jeremy Miller, Candace Vonderwahl, Suzanne Speers, Karen Alelis, Kristin Sweet, Elena Rocchio, Tasha Poissant, Tara M. Vogt, Kathleen Gallagher   +9 more
openalex   +1 more source

Understanding well‐being and safety for First Nations children and young people in the Riverland—Engaging with metic knowledge via a capability approach

Australian Journal of Social Issues, EarlyView.
Abstract Aboriginal culture is both a strength and a protective factor for Aboriginal children; yet, we continue to see disparities in education, health and well‐being outcomes. To improve outcomes for Aboriginal children and families, local cultural ways of knowing, being and doing need to be incorporated into policy and practice.
Michelle Jones, Luke Cantley, Donna Quinn, Daniel Quinn, Craig Rigney, Jenny van der Arend   +5 more
wiley   +1 more source