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61
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62
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63
Disc degeneration-related clinical phenotypes
Published 2014“…When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). …”
Journal article -
64
Phenotypic modelling of the polyfunctional T cell response
Published 2018“…An overwhelming number of molecular components that are involved in the translation of the pMHC stimulus into an appropriate cytokine response have been identified, but a mechanistic understanding of how the quality of the pMHC stimulus, i.e. pMHC dose and affinity, determines the response phenotype is lacking. Here, reductionist T cell stimulation experiments were combined with a coarse-grained phenotypic modelling approach to identify prevailing modules that shape the phenotype of cytokine secretion in response to stimulation with pMHC. …”
Thesis -
65
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66
Behavioral phenotypes: conceptual and methodological issues.
Published 1998“…Three issues are considered here: the problem of defining a behavioral phenotype, the difficulty of demonstrating the existence of a behavioral phenotype, and the likelihood of characterizing etiologically important genes. …”
Journal article -
67
Thymic dendritic cells: phenotype and function.
Published 1990“…Interdigitating (IDC) cells of the thymus have been characterized in situ by their ultrastructure and phenotype. Thymic dendritic cells (DC), thought to represent their in vitro correlate, resemble splenic DC in their ability to initiate peripheral T cell responses. …”
Journal article -
68
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69
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70
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71
Genotype and phenotype relationships in neurodevelopmental disorders
Published 2017“…</p> <p>Secondly, to elucidate the vast phenotypic heterogeneity of NDDs, we conducted a systematic investigation of genotype and phenotype relationships in DD, ID and ASD. …”
Thesis -
72
Challenges and advances in measuring phenotypic convergence
Published 2024“…<p>Tests of phenotypic convergence can provide evidence of adaptive evolution, and the popularity of such studies has grown in recent years due to the development of novel, quantitative methods for identifying and measuring convergence. …”
Journal article -
73
Gastrointestinal phenotype of ATR-X syndrome.
Published 2006“…In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. …”
Journal article -
74
The bipolar phenotype: behavioural and neurobiological characteristics
Published 2012“…In Studies 2-5 we explored the hypotheses of altered emotional decision-making, reward processing and neurostructural integrity as behavioral and neurobiological markers for vulnerability to bipolar disorder via the study of young adults with a common bipolar phenotype (BPP) - some of whom meet diagnostic criteria for bipolar II or not-otherwise-specified disorder (BD II/NOS). …”
Thesis -
75
Cluster analysis and clinical asthma phenotypes.
Published 2008“…CONCLUSIONS: Cluster analysis offers a novel multidimensional approach for identifying asthma phenotypes that exhibit differences in clinical response to treatment algorithms.…”
Journal article -
76
Phenotype standardization for statin-induced myotoxicity.
Published 2014“…Research in this area has been hampered to some extent by the lack of standardized nomenclature and phenotypic definitions. We have used numerical and descriptive classifications and developed an algorithm to define statin-related myotoxicity phenotypes, including myalgia, myopathy, rhabdomyolysis, and necrotizing autoimmune myopathy.…”
Journal article -
77
Disc degeneration-related clinical phenotypes.
Published 2014“…When selecting phenotypes, a basic decision is whether to focus directly on the complex clinical phenotype (e.g. the clinical syndrome of spinal stenosis), which is ultimately of interest, or an intermediate phenotype (e.g. dural sac cross-sectional area). …”
Journal article -
78
Genotype and phenotype relationships in neurodevelopmental disorders
Published 2017“…</p> <p>Secondly, to elucidate the vast phenotypic heterogeneity of NDDs, we conducted a systematic investigation of genotype and phenotype relationships in DD, ID and ASD. …”
Thesis -
79
Probabilistic bias in genotype-phenotype maps
Published 2014“…We focus on examining <em>phenotypic bias</em> in GP maps, where some phenotypes have disproportionally large NSS as compared to others. …”
Thesis -
80
Methods to jointly analyze multiple phenotypes
Published 2016“…Multi-trait analyses are natural for biobanks and high-throughput phenotypic measurements like gene expression, medical images or metabolites.…”
Thesis