Results 41 to 50 of about 21,367 (237)
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, EarlyView.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
Relationship Between the Foveal Avascular Zone and Foveal Pit Morphology [PDF]
, 2012 Purpose.To assess the relationship between foveal pit morphology and size of the foveal avascular zone (FAZ). Methods. Forty-two subjects were recruited.
Beringer, Joseph +5 more
core +2 more sources
American Journal of Botany, EarlyView.Abstract Premise Flower color, a key trait influencing plant–pollinator interactions, may be influenced by abiotic factors such as soil. We investigated association between pollinators, soil characteristics, and flower color variations in Digitalis purpurea across native populations in Sweden and introduced populations in Bolivia.
Sissi Lozada‐Gobilard +6 more
wiley +1 more source
Identifying strategies to enhance the educational inclusion of visually impaired children with albinism in Malawi [PDF]
, 2014 Oculocutaneous albinism is an inherited condition with significant health and social impact on the lives of those affected throughout sub-Saharan, including in Malawi.
Lund, Patricia, Lynch, P., Massah, B.
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
African Journal of Disability, 2021 Background: Albinism in humans is characterised by a reduced amount of pigment (melanin) present in the skin, hair follicles and the eye; approximately 7000–10 000 Malawians of all ages are affected.
Naomi Likumbo +2 more
doaj +1 more source
, 1992 High rates of female breeding success and offspring survival are the two major factors in productivity of any commercial livestock industry. To im prove breeding success and offspring survival, the herd m anager will establish selection criteria and ...
Blake, John E., Renecker, Lyle A.
core
British Educational Research Journal, EarlyView.Abstract Quality in early childhood education and care (ECEC) is a contested concept and has generally been conceptualised by inter‐related indicators such as staff qualifications, educational environment, policy or child‐to‐staff ratios. There has been a more limited emphasis on how young children might perceive and experience quality.
Nikki Fairchild, Éva Mikuska
wiley +1 more source
Reception Baseline Assessment and ‘small acts’ of micro‐resistance
British Educational Research Journal, EarlyView.Abstract In September 2021, following the global COVID‐19 pandemic, the Department for Education introduced a national standardised digital Reception Baseline Assessment (RBA) for all English 4‐year‐old children. We analyse RBA and its associated Quality Monitoring Visits, as a further intensification of the new public management of early years ...
Guy Roberts‐Holmes +2 more
wiley +1 more source
Scientific Reports, 2017 Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes.
Chelsea S. Norman +17 more
doaj +1 more source