Results 11 to 20 of about 2,406,008 (205)
Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]
, 2014 Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler +24 more
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Italian Journal of Pediatrics, 2017 A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune +4 more
doaj +1 more source
Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Vojnosanitetski Pregled, 2012 Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan +3 more
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Scientific Reports, 2017 Abnormal nutrient metabolism is a hallmark of aging, and the underlying genetic and nutritional framework is rapidly being uncovered, particularly using C. elegans as a model. However, the direct metabolic consequences of perturbations in life history of
Arwen W. Gao +13 more
doaj +1 more source
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
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Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]
, 2015 The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa +6 more
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Infectious diseases and autoimmunity [PDF]
, 2011 Introduction: Autoimmunity occurs when the immune system recognizes and attacks host tissue. In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the ...
Deidda, Silvia +3 more
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Assessing the knowledge and awareness of the Taif community about genetic diseases
Journal of Biochemical and Clinical Genetics, 2022 Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie +6 more
doaj +1 more source
Genetic Factors Contributing to the Susceptibility of Development of Prion Diseases [PDF]
, 2017 This paper won an honorable mention writing flag award in the research category. Claire Culbertson, writing for Katherine Bruner’s BIO 325L class, “Lab Experience in Genetics”.Bruner, KatherineUndergraduate ...
Culbertson, Claire
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Huntington’s disease genetics [PDF]
NeuroRX, 2004 Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and ...
openaire +2 more sources