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Bioinformatics (Oxford, England)|June 24, 2024
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontologyTudor Groza, Dylan Gration, Gareth Baynam, et al.
Best Practice & Research. Clinical Obstetrics & Gynaecology|December 31, 2024
Fetal imaging, phenotyping, and genomic testing in modern prenatal diagnosisMatthew A Shear, Peter N Robinson, Teresa N Sparks
Bioinformatics (Oxford, England)|May 31, 2008
Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data explorationSebastian Bauer, Steffen Grossmann, Martin Vingron, et al.
NAR Genomics and Bioinformatics|December 11, 2024
IsopretGO-analysing and visualizing the functional consequences of differential splicingGuy Karlebach, Peter Hansen, Kristin Köhler, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathyEberhard Passarge, Peter N Robinson, Luitgard M Graul-Neumann
Bioinformatics (Oxford, England)|February 7, 2004
Ontologizing gene-expression microarray data: characterizing clusters with Gene OntologyPeter N Robinson, Andreas Wollstein, Ulrike Böhme, et al.
Journal of Cell Science|November 25, 2010
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activityDaniel Horbelt, Gao Guo, Peter N Robinson, et al.
BMC Bioinformatics|October 14, 2017
Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methodsMarco Notaro, Max Schubach, Peter N Robinson, et al.
Bioinformatics (Oxford, England)|September 13, 2007
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysisSteffen Grossmann, Sebastian Bauer, Peter N Robinson, et al.
Clinical Rehabilitation|September 18, 2014
Life goal attainment in the adaptation process after acquired brain injury: the influence of self-efficacy and of flexibility and tenacity in goal pursuitIngrid Brands, Sven Stapert, Sebastian Köhler, et al.
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