检索结果 - Turro, Ernest

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases 由 Greene, Daniel, Richardson, Sylvia, Turro, Ernest

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ontologyX: a suite of R packages for working with ontological data 由 Greene, Daniel, Richardson, Sylvia, Turro, Ernest

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A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases 由 Greene, Daniel, Richardson, Sylvia, Turro, Ernest

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Hybrid Mice Reveal Parent-of-Origin and Cis- and Trans-Regulatory Effects in the Retina 由 Shen, Susan Q., Turro, Ernest, Corbo, Joseph C.

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BGX: a Bioconductor package for the Bayesian integrated analysis of Affymetrix GeneChips 由 Turro, Ernest, Bochkina, Natalia, Hein, Anne-Mette K, Richardson, Sylvia

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MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays 由 Turro, Ernest, Lewin, Alex, Rose, Anna, Dallman, Margaret J., Richardson, Sylvia

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MMBGX: a method for estimating expression at the isoform level and detecting differential splicing using whole-transcript Affymetrix arrays 由 Turro, Ernest, Lewin, Alex, Rose, Anna, Dallman, Margaret J., Richardson, Sylvia

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Inherited platelet disorders: toward DNA-based diagnosis 由 Lentaigne, Claire, Freson, Kathleen, Laffan, Michael A., Turro, Ernest, Ouwehand, Willem H.

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Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells 由 Latos, Paulina A., Goncalves, Angela, Oxley, David, Mohammed, Hisham, Turro, Ernest, Hemberger, Myriam

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Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads 由 Turro, Ernest, Su, Shu-Yi, Gonçalves, Ângela, Coin, Lachlan JM, Richardson, Sylvia, Lewin, Alex

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Extensive Co-Operation between the Epstein-Barr Virus EBNA3 Proteins in the Manipulation of Host Gene Expression and Epigenetic Chromatin Modification 由 White, Robert E., Groves, Ian J., Turro, Ernest, Yee, Jade, Kremmer, Elisabeth, Allday, Martin J.

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Correction: Induction of p16(INK4a) Is the Major Barrier to Proliferation when Epstein-Barr Virus (EBV) Transforms Primary B Cells into Lymphoblastoid Cell Lines 由 Skalska, Lenka, White, Robert E., Parker, Gillian A., Turro, Ernest, Sinclair, Alison J., Paschos, Kostas, Allday, Martin J.

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PIGO deficiency: palmoplantar keratoderma and novel mutations 由 Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen

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Extensive compensatory cis-trans regulation in the evolution of mouse gene expression 由 Goncalves, Angela, Leigh-Brown, Sarah, Thybert, David, Stefflova, Klara, Turro, Ernest, Flicek, Paul, Brazma, Alvis, Odom, Duncan T., Marioni, John C.

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Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision 由 Dalby, Amanda, Ballester-Beltrán, Jose, Lincetto, Chiara, Mueller, Annett, Foad, Nicola, Evans, Amanda, Baye, James, Turro, Ernest, Moreau, Thomas, Tijssen, Marloes R., Ghevaert, Cedric

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Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy 由 Burley, Kate, Whyte, Claire S., Westbury, Sarah K., Walker, Mary, Stirrups, Kathleen E., Turro, Ernest, Chapman, Oliver G., Reilly-Stitt, Christopher, Mutch, Nicola J., Mumford, Andrew D.

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A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets 由 Padmakumar, Manisha, Jaeken, Jaak, Ramaekers, Vincent, Lagae, Lieven, Greene, Daniel, Thys, Chantal, Van Geet, Chris, BioResource, NIHR, Stirrups, Kathleen, Downes, Kate, Turro, Ernest, Freson, Kathleen

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Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia 由 Cornish, Naomi, Aungraheeta, M. Riyaad, FitzGibbon, Lucy, Burley, Kate, Alibhai, Dominic, Collins, Janine, Greene, Daniel, Downes, Kate, Westbury, Sarah K., Turro, Ernest, Mumford, Andrew D.

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MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases 由 Ratnaike, Thiloka E, Greene, Daniel, Wei, Wei, Sanchis-Juan, Alba, Schon, Katherine R, van den Ameele, Jelle, Raymond, Lucy, Horvath, Rita, Turro, Ernest, Chinnery, Patrick F

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mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity 由 Waldron, Joseph A., Tack, David C., Ritchey, Laura E., Gillen, Sarah L., Wilczynska, Ania, Turro, Ernest, Bevilacqua, Philip C., Assmann, Sarah M., Bushell, Martin, Le Quesne, John

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