Results 81 to 90 of about 287,377 (281)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

Australian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy, Bhiamie Williamson, Jesse Williams   +2 more
wiley   +1 more source

Culturally Safe Assistive Technology Provision in Australia: Concept Mapping Perspectives From Aboriginal and Torres Strait Islander People

Australian Journal of Social Issues, EarlyView.
ABSTRACT Disparities in Assistive Technology (AT) access exist for Aboriginal and Torres Strait Islander peoples despite recent policy reforms. This paper brings together First Nations and Western academic ways of being, knowing and doing to deliver an AT practice analysis based upon primary data from two research reports into the cultural safety of AT
Shane Hearn, Vanessa Langenberg, Kristy Harper, Libby Callaway, Hilary O'Connell, Eleanor Kennett‐Smith, Natasha Layton   +6 more
wiley   +1 more source

Education and Tourism: The Inclusion of Ancestral Knowledge in the University Degree Curricula

ARCHive-SR, 2018
Being able to recognize your own individual rights in vulnerable situations is a good way to live. A new curriculum developed under Ecuador’s Higher Education Board brings together the inter-cultural concept.
Danny Rivera Flores, Juan Carlos Pazán, Corina Núñez   +2 more
doaj   +1 more source

Tōku tūrangawaewae: Culture, identity, and belonging for Māori homeless people [PDF]

, 2010
To be Māori is to have a tūrangawaewae (a place of strength and belonging, a place to stand). If so, is it conceivable that Māori are homeless in our own homeland? This presentation focuses on the experiences of two Māori homeless people who took part in
Groot, Shiloh Ann Maree, Hodgetts, Darrin, Nikora, Linda Waimarie, Rua, Mohi   +3 more
core  

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Rural women in boyacá: a tissue of ancestral knowledge

, 2022
Despite the great limitations that rural women have in terms of access to education, health, land ownership, public services, Rural Women in Boyacá are possessors of very sophisticated knowledge inherited from oral tradition and which is reflected in the form of build their productive life systems through symbols, values, beliefs, concepts, methods ...
Mejía Alfonso, Sandra Liliana, Mejia Alfonso, Hebert Mauricio, Mejía Alfonso, Sandra Liliana, Mejia Alfonso, Hebert Mauricio   +3 more
openaire   +3 more sources

A Complete Generalized Adjustment Criterion

, 2015
Covariate adjustment is a widely used approach to estimate total causal effects from observational data. Several graphical criteria have been developed in recent years to identify valid covariates for adjustment from graphical causal models.
Kalisch, Markus, Maathuis, Marloes H., Perković, Emilija, Textor, Johannes   +3 more
core   +1 more source