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Phenotype
Subject of
SIRT1 transgenic mice show phenotypes resembling calorie restriction
? TBD
scientific article (publication date: 13 August 2007)
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
? TBD
scientific article
Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation
? TBD
scientific article (publication date: 14 December 2010)
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
? TBD
scientific article
Proteolipid protein gene modulates viability and phenotype of neurons
? TBD
scientific article published on 01 March 2002
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
? TBD
scientific article published in December 2010
Increased incidence of visceral metastases in scottish patients with BRCA1/2-defective ovarian cancer: an extension of the ovarian BRCAness phenotype
? TBD
scientific article published on 20 April 2010
Towards a Cognitive Phenotype for Autism: Increased Prevalence of Executive Dysfunction and Superior Spatial Span amongst Siblings of Children with Autism
? TBD
article
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
? TBD
article
Chlamydia pneumoniae induces a pro-inflammatory phenotype in murine vascular smooth muscle cells independently of elevating reactive oxygen species
? TBD
scientific article published on March 2012
Anhedonia as a phenotype for the Val158Met COMT polymorphism in relatives of patients with schizophrenia.
? TBD
scientific article
Alterations of the early auditory evoked gamma-band response in first-degree relatives of patients with schizophrenia: Hints to a new intermediate phenotype
? TBD
article
Natural selection of tumor variants in the generation of "tumor escape" phenotypes
? TBD
scientific article
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
? TBD
scientific article
Using measures of single-cell physiology and physiological state to understand organismic aging
? TBD
scientific article
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
? TBD
scientific article (publication date: 8 March 2012)
A surrogate marker of piperaquine-resistant Plasmodium falciparum malaria: a phenotype-genotype association study
? TBD
scientific article
Serum response factor and myocardin mediate arterial hypercontractility and cerebral blood flow dysregulation in Alzheimer's phenotype
? TBD
scientific article
Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data
? TBD
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
? TBD
scientific journal article
The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease
? TBD
scientific article published on 22 December 2014
Naïve Electronic Health Record phenotype identification for Rheumatoid arthritis
? TBD
scientific article published on 22 October 2011
FYPO: the fission yeast phenotype ontology
? TBD
scientific article (publication date: July 2013)
Acute exercise mobilises CD8+ T lymphocytes exhibiting an effector-memory phenotype
? TBD
scientific article published on 28 February 2009
Visualization and curve-parameter estimation strategies for efficient exploration of phenotype microarray kinetics
? TBD
scientific article published in 2012
Large differences in aging phenotype between strains of the short-lived annual fish Nothobranchius furzeri
? TBD
scientific article published on 4 December 2008
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
? TBD
scientific article
Mechanistic machine learning: how data assimilation leverages physiologic knowledge using Bayesian inference to forecast the future, infer the present, and phenotype
? TBD
scientific article published on 01 October 2018
Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects
? TBD
scientific article published on 19 June 2020
BMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease
? TBD
scientific article published on 13 May 2019