Results 21 to 30 of about 172,226 (152)
Phenotypic heterogeneity in cystic fibrosis [PDF]
American Journal of Medical Genetics, 1982 AbstractWe have confirmed heterogenity in CF using a different combination of primary clinical variables than those used in previous studies. Subgroupings of individuals with similar levels of sweat chloride were independent of the clustering based on level of pancreatic enzyme supplementation and degree of pulmonary involvement.
Sing, Charles F. +3 more
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Hypertrabeculation; a phenotype with Heterogeneous etiology
Progress in Cardiovascular Diseases, 2021 Left ventricular hypertrabeculation (LVHT) is a phenotype with multiple etiologies and variable clinical presentation and significance. It is characterized by a 2-layer myocardium with an enlarged trabecular layer and a thinner compacted layer. The prevalence has been increasing due to advances in cardiac imaging.
Fatemeh, Adabifirouzjaei +2 more
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Phenotypic heterogeneity in severe hemophilia [PDF]
Journal of Thrombosis and Haemostasis, 2007 Large heterogeneity in bleeding pattern and arthropathy is observed among patients with severe hemophilia. Studies have reported a large variability in bleeding pattern among patients with severe hemophilia. Of special interest are some 10% of the patients with severe hemophilia who only rarely bleed and don't need prophylactic therapy.
H M, van den Berg +2 more
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Phenotypic heterogeneity in bacterial populations
Acta Agriculturae Slovenica, 2007 Genetically uniform bacterial cells exhibit heterogeneity such as intrapopulation differences in metabolism as well as variation in growth rate.
Darja ŽGUR-BERTOK
doaj +1 more source
Phenotypic heterogeneity of ZMPSTE24 deficiency [PDF]
American Journal of Medical Genetics Part A, 2018 A 4‐year‐old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman–Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c ...
Thomas A. Cassini +7 more
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Privatization of Biofilm Matrix in Structurally Heterogeneous Biofilms
mSystems, 2020 The self-produced biofilm provides beneficial protection for the enclosed cells, but the costly production of matrix components makes producer cells susceptible to cheating by nonproducing individuals.
Simon B. Otto +7 more
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Immunodeficiency in Vici syndrome: A heterogeneous phenotype [PDF]
American Journal of Medical Genetics Part A, 2011 AbstractVici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an ...
FINOCCHI, ANDREA +8 more
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Genetic correlates of phenotypic heterogeneity in autism [PDF]
Nature Genetics, 2020 Abstract The substantial phenotypic heterogeneity in autism limits our understanding of its genetic aetiology. To address this gap, we investigated genetic differences between autistic individuals (N max = 12,893) based on core (i.e., social communication difficulties, and ...
Varun Warrier +82 more
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Phenotypic heterogeneity in mycobacterial stringent response [PDF]
BMC Systems Biology, 2011 Abstract Background A common survival strategy of microorganisms subjected to stress involves the generation of phenotypic heterogeneity in the isogenic microbial population enabling a subset of the population to survive under stress. In a recent study, a mycobacterial population of M.
Sayantari Ghosh +5 more
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One Health & Risk Management, 2021 Introduction. In recent years, due to wide applications of nanotechnologies in various fields, the safety of nanomaterials has become a pressing issue. Fullerene C60 is not an exception.
Olga POSTOLACHI +2 more
doaj +3 more sources