The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase [PDF]
purposeInborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at ...
Alessandro, Aiuti +49 more
core +4 more sources
Review and perspective of molecular genetics and molecular diagnosis in neurogenetic disorders
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 DOI：10.3969/j.issn.1672⁃6731.2012.03 ...
Bei⁃sha TANG
doaj
Gene-associated Disease Discovery Powered by Large Language Models [PDF]
arXivThe intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing techniques has significantly improved the efficiency and cost-effectiveness of detecting these genetic markers, playing a ...
arxiv
How to develop smarter host mixtures to control plant disease? [PDF]
arXiv, 2014 A looming challenge for agriculture is sustainable intensification of food production to feed the growing human population. Current chemical and genetic technologies used to manage plant diseases are highly vulnerable to pathogen evolution and are not sustainable.
arxiv
Frontiers in Dentistry, 2016 Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder.
Rezvan Rafatjou +3 more
doaj
Genetics-Driven Personalized Disease Progression Model [PDF]
arXivModeling disease progression through multiple stages is critical for clinical decision-making for chronic diseases, e.g., cancer, diabetes, chronic kidney diseases, and so on. Existing approaches often model the disease progression as a uniform trajectory pattern at the population level. However, chronic diseases are highly heterogeneous and often have
arxiv
Primary Atopic Disorders: Expanding Field of Inborn Errors of Immunity
Turkish Journal of ImmunologyInborn errors of immunity cover a broad spectrum of diseases from immune deficiency syndromes to hyperinflammatory conditions. Primary atopic disorders are a recent member of this spectrum as a group that embracing monogenic immune deregulatory diseases ...
Güzin Özçifci +3 more
doaj +1 more source
Efficient imaging and computer vision detection of two cell shapes in young cotton fibers
Applications in Plant Sciences, Volume 10, Issue 6, November-December 2022., 2022 Abstract Premise The shape of young cotton (Gossypium) fibers varies within and between commercial cotton species, as revealed by previous detailed analyses of one cultivar of G. hirsutum and one of G. barbadense. Both narrow and wide fibers exist in G. hirsutum cv.
Benjamin P. Graham +5 more
wiley +1 more source
Implications of self-identified race, ethnicity, and genetic ancestry on genetic association studies in biobanks within health systems [PDF]
arXivPrecision medicine aims to create biomedical solutions tailored to specific factors that affect disease risk and treatment responses within the population. The success of the genomics era and recent widespread availability of electronic health records (EHR) has ushered in a new wave of genomic biobanks connected to EHR databases (EHR-linked biobanks ...
arxiv
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis
Human Genetics, 2020 V. Béziat
semanticscholar +1 more source