Results 131 to 140 of about 13,282 (244)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp +7 more
wiley +1 more source
Vaccinia virus thymidine kinase and neighboring genes: mRNAs and polypeptides of wild-type virus and putative nonsense mutants [PDF]
, 1983 György Bajszár +3 more
openalex +1 more source
Australian Journal of Social Issues, EarlyView.Abstract This paper explores the animating ethos of digital unemployment services. Unlike human‐to‐human services, where the intention of policy is normally mediated by professionals, digital services are fully designed in the policy imagination. As a result, it is a pressing issue to understand the ethos that animates their development.
Ray Griffin +2 more
wiley +1 more source
Nonsense suppressors of yeast cause osmotic-sensitive growth.
, 1977 Arjun Singh
openalex +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Ensuring that Aboriginal and Torres Strait Islander children removed from their families by child protection services remain connected to their kin, Country and culture is a priority to begin to redress the intergenerational trauma and harm caused by colonisation.
Sharynne Hamilton +9 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas +4 more
wiley +1 more source
Analysis of btuB receptor function by use of nonsense suppression [PDF]
, 1982 Michael Hunter, Robert E. Glass
openalex +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody [PDF]
, 1988 Sadaaki Mikai +6 more
openalex +1 more source