Results 61 to 70 of about 13,095,395 (361)
Biomarkers in Rare Diseases [PDF]
International Journal of Molecular Sciences, 2021 There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
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Opportunities and Challenges for Machine Learning in Rare Diseases
Frontiers in Medicine, 2021 Rare diseases (RDs) are complicated health conditions that are difficult to be managed at several levels. The scarcity of available data chiefly determines an intricate scenario even for experts and specialized clinicians, which in turn leads to the so ...
S. Decherchi +4 more
semanticscholar +1 more source
National programme for rare diseases 2019–2023 [PDF]
, 2020 It is estimated that six out of one hundred Finns have a rare disease, injury, syndrome or malformation. It can sometimes be challenging and time-consuming to identify them.
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) [PDF]
, 2022 BACKGROUND: In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium.
Schuermans, Nika +50 more
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Tracking sex-dependent differences in a mouse model of CLN6-Batten disease
Orphanet Journal of Rare Diseases, 2019 Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens +7 more
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Scientific Reports, 2021 Aberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is enzymatically
James C. Dodge +3 more
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Orphanet Journal of Rare Diseases, 2021 Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical ...
A. Tisdale +14 more
semanticscholar +1 more source
Comparison of statistical tests for association between rare variants and binary traits. [PDF]
, 2012 Genome-wide association studies have found thousands of common genetic variants associated with a wide variety of diseases and other complex traits. However, a large portion of the predicted genetic contribution to many traits remains unknown.
Nelson Matthew R. +13 more
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Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China [PDF]
, 2022 Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has ...
ZHANG Shuyang, ZHU Yicheng
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Proteomic signatures improve risk prediction for common and rare diseases
Nature MedicineFor many diseases there are delays in diagnosis due to a lack of objective biomarkers for disease onset. Here, in 41,931 individuals from the United Kingdom Biobank Pharma Proteomics Project, we integrated measurements of ~3,000 plasma proteins with ...
J. Carrasco-Zanini +21 more
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