Results 171 to 180 of about 1,423,846 (344)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

GENDER AND SCHOOL TYPE AS PREDICTORS OF SOCIAL SKILLS DEVELOPMENT OF LEARNERS WITH INTELLECTUAL DISABILITY IN IBADAN

open access: yesTurkish International Journal of Special Education and Guidance & Counselling
This study explored gender and school type as predictors of social skills development of learners with Intellectual Disability (ID). Researches on Influence of Gender and School type on specific social skills development of learners with ID have been ...
Oyeyemi Omolayo OLADIMEJI
doaj  

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
E. Woods   +3 more
wiley   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz   +7 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen   +2 more
wiley   +1 more source

On the Prospects for African Philosophy in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

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