Results 41 to 50 of about 16,587 (281)

Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability

The Journal of Qazvin University of Medical Sciences, 2020
Background Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Genetic diseases account for 50% of ID incidents and have important role in its development. One of the most
Sara Cheraghi, Sahar Moghbelinejad, Reza Najafipour   +2 more
doaj   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

Owning Home, Finding Belonging: Relational Meanings of Homeownership for Migrant Healthcare Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Migrant healthcare workers in Australia find themselves at the centre of three intersecting concerns, often presented as ‘crises’ in contemporary discourse: the ‘care crisis’, the ‘housing crisis’ and the ‘migration crisis.’ Yet their own perspectives on these issues are rarely foregrounded. This paper explores the role of homeownership in the
Leah Williams Veazey
wiley   +1 more source

Family Dispute Resolution in Australia: The Under‐Servicing of Indigenous, Migrant and Refugee Families Experiencing Family Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Improving access to legal services for Indigenous, migrant and refugee women is critical to addressing family violence. In this context, Family Dispute Resolution (FDR) has long been discussed as a solution for separating families. This paper presents key findings of a research evaluation of an Australian Government $8.37 million pilot project
Siobhan McDonnell, Alyson Wright
wiley   +1 more source

Prevalence and Pattern of Consanguineous Marriages Among Different Communities in Mangalore [PDF]

, 2013
Introduction: Consanguineous marriages are a common practice in the Middle East, Asian and African populations. Many studies have stated an association between first cousin marriages and the incidence of autosomal recessive diseases and congenital ...
Avadhani, R, Bhagya, B, Sucharitha, S
core  

Body donor programs in Australia and New Zealand: Current status and future opportunities

Anatomical Sciences Education, Volume 18, Issue 3, Page 301-328, March 2025.
Abstract Body donation is critical to anatomy study in Australia and New Zealand. Annually, more than 10,000 students, anatomists, researchers, and clinicians access tissue donated by local consented donors through university‐based body donation programs. However, little research has been published about their operations.
Rebekah A. Jenkin, Kevin A. Keay
wiley   +1 more source

The knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran [PDF]

, 2012
Aim: Consanguinity is an important risk factor in genetic diseases and in congenital malformations. This study was done to assess the knowledge and the attitude of youth couples on/towards consanguineous marriages in the north of Iran.
Golalipour, M.J., Keshtkar, A.A., Sedehi, M.   +2 more
core  

Beyond the grave: Do the dead have rights?

Anatomical Sciences Education, EarlyView.
Abstract Anatomists who work with the Dead often see themselves as custodians of the Dead. To those who opine that the Dead no longer have Rights (legal or moral) or privileges and have nothing more to contribute to the development of Society or to human endeavor, the Dead's custodians might respond that there is ample evidence that some Rights and ...
Beverley Kramer, Bernard Moxham
wiley   +1 more source

Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples

Scientific Reports, 2023
Consanguineous marriage is defined as marriage between first or second-degree cousins, with high prevalence in many cultures and societies. Descendants from consanguineous unions have an increased risk for genetic diseases.
Laura Melado, Barbara Lawrenz, Daniela Nogueira, Araz Raberi, Rachana Patel, Asina Bayram, Ibrahim Elkhatib, Human Fatemi   +7 more
doaj   +1 more source

Developing a critical caste analysis within information science and technology: A research review: An annual review of information science and technology paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Caste—an ascriptive social hierarchy in South Asia and its diaspora—is a globalized phenomenon. Recent caste‐based discrimination, particularly in technology companies and anti‐caste efforts to address it, has compelled academia, policy, and the technology industry to better understand contemporary mechanics of caste.
Nayana Kirasur, Britt Paris
wiley   +1 more source