Results 201 to 210 of about 186,810 (309)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

Confessions of a Poverty Researcher: My Journey Through the Foothills of Scholarship

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper describes the key events, experiences and ideas that influenced the author's career as a poverty researcher. He describes how his early disillusion with economics was replaced by a spark of interest in social issues and how his migration from the UK to Australia in the mid‐1970s provided the impetus to begin what became a lifetime ...
Peter Saunders
wiley   +1 more source

Adults With Intellectual Disability Moving out of the Family Home Using the National Disability Insurance Scheme: Family Members' Planning Experiences

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT For adults with intellectual disability and their families, future planning and moving out of the family home in Australia will increasingly occur within the context of the National Disability Insurance Scheme (NDIS). As a market‐based, individualised funding system its impact on this transition remains largely unknown. This paper reports on a
I. Belperio   +5 more
wiley   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu   +5 more
wiley   +1 more source

A Fast Method for Selecting Bio Sourced Materials of Interest in a Candle Formulation

open access: yesJournal of the American Oil Chemists' Society, EarlyView.
ABSTRACT As consumer demand shifts towards more sustainable and nontoxic alternatives, the candle industry is exploring unconventional bio‐based and recycled materials as substitutes for paraffin. Four raw materials, that is rice bran wax (RBW), sugarcane wax (SCW), hydrogenated rapeseed oil (HRO), and waste cooking oil (WCO) were assessed based on ...
Salma Daoufa   +4 more
wiley   +1 more source

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