Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolutionBähler, Jürg ; Wilhelm, Brian T ; Marguerat, Samuel ; Watt, Stephen ; Schubert, Falk ; Wood, Valerie ; Goodhead, Ian ; Penkett, Christopher J ; Rogers, JaneNature, 2008-06, Vol.453 (7199), p.1239-1243 [Periódico revisado por pares]London: Nature PublishingTexto completo disponível |
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2 |
Material Type: Artigo
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossStritt, Simon ; Nurden, Paquita ; Turro, Ernest ; Greene, Daniel ; Jansen, Sjoert B. ; Westbury, Sarah K. ; Petersen, Romina ; Astle, William J. ; Marlin, Sandrine ; Bariana, Tadbir K. ; Kostadima, Myrto ; Lentaigne, Claire ; Maiwald, Stephanie ; Papadia, Sofia ; Kelly, Anne M. ; Stephens, Jonathan C. ; Penkett, Christopher J. ; Ashford, Sofie ; Tuna, Salih ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Favier, Rémi ; Lambert, Michele P. ; Mathias, Mary ; Millar, Carolyn M. ; Mapeta, Rutendo ; Perry, David J. ; Schulman, Sol ; Simeoni, Ilenia ; Thys, Chantal ; Gomez, Keith ; Erber, Wendy N. ; Stirrups, Kathleen ; Rendon, Augusto ; Bradley, John R. ; van Geet, Chris ; Raymond, F.Lucy ; Laffan, Michael A. ; Nurden, Alan T. ; Nieswandt, Bernhard ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem H. ; Mumford, Andrew D.Blood, 2016-06, Vol.127 (23), p.2903-2914 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylationKIRMIZIS, Antonis ; SANTOS-ROSA, Helena ; PENKETT, Christopher J ; SINGER, Michael A ; VERMEULEN, Michiel ; MANN, Matthias ; BÄHLER, Jürg ; GREEN, Roland D ; KOUZARIDES, TonyNature, 2007-10, Vol.449 (7164), p.928-932 [Periódico revisado por pares]London: Nature PublishingTexto completo disponível |
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4 |
Material Type: Artigo
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Genome-wide characterization of fission yeast DNA replication originsHeichinger, Christian ; Penkett, Christopher J ; Bähler, Jürg ; Nurse, PaulThe EMBO journal, 2006-11, Vol.25 (21), p.5171-5179 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 GlomerulopathyLevine, Adam P ; Chan, Melanie M Y ; Sadeghi-Alavijeh, Omid ; Wong, Edwin K S ; Cook, H Terence ; Ashford, Sofie ; Carss, Keren ; Christian, Martin T ; Hall, Matthew ; Harris, Claire Louise ; McAlinden, Paul ; Marchbank, Kevin J ; Marks, Stephen D ; Maxwell, Heather ; Megy, Karyn ; Penkett, Christopher J ; Mozere, Monika ; Stirrups, Kathleen E ; Tuna, Salih ; Wessels, Julie ; Whitehorn, Deborah ; Johnson, Sally A ; Gale, Daniel PJournal of the American Society of Nephrology, 2020-02, Vol.31 (2), p.365-373 [Periódico revisado por pares]United States: American Society of NephrologyTexto completo disponível |
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6 |
Material Type: Artigo
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Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaLentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, ErnestBlood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in HumansBa-Abbad, Rola, MD ; Arno, Gavin, PhD ; Carss, Keren, PhD ; Stirrups, Kathleen, PhD ; Penkett, Christopher J., PhD ; Moore, Anthony T., MD ; Michaelides, Michel, MD ; Raymond, F. Lucy, MA, DPhil ; Webster, Andrew R., MD ; Holder, Graham E., PhDOphthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.668-671.e2 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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Platelet function is modified by common sequence variation in megakaryocyte super enhancersPetersen, Romina ; Lambourne, John J ; Javierre, Biola M ; Grassi, Luigi ; Kreuzhuber, Roman ; Ruklisa, Dace ; Rosa, Isabel M ; Tomé, Ana R ; Elding, Heather ; van Geffen, Johanna P ; Jiang, Tao ; Farrow, Samantha ; Cairns, Jonathan ; Al-Subaie, Abeer M ; Ashford, Sofie ; Attwood, Antony ; Batista, Joana ; Bouman, Heleen ; Burden, Frances ; Choudry, Fizzah A ; Clarke, Laura ; Flicek, Paul ; Garner, Stephen F ; Haimel, Matthias ; Kempster, Carly ; Ladopoulos, Vasileios ; Lenaerts, An-Sofie ; Materek, Paulina M ; McKinney, Harriet ; Meacham, Stuart ; Mead, Daniel ; Nagy, Magdolna ; Penkett, Christopher J ; Rendon, Augusto ; Seyres, Denis ; Sun, Benjamin ; Tuna, Salih ; van der Weide, Marie-Elise ; Wingett, Steven W ; Martens, Joost H ; Stegle, Oliver ; Richardson, Sylvia ; Vallier, Ludovic ; Roberts, David J ; Freson, Kathleen ; Wernisch, Lorenz ; Stunnenberg, Hendrik G ; Danesh, John ; Fraser, Peter ; Soranzo, Nicole ; Butterworth, Adam S ; Heemskerk, Johan W ; Turro, Ernest ; Spivakov, Mikhail ; Ouwehand, Willem H ; Astle, William J ; Downes, Kate ; Kostadima, Myrto ; Frontini, MattiaNature communications, 2017-07, Vol.8 (1), p.16058-16058, Article 16058 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSivapalaratnam, Suthesh ; Westbury, Sarah K. ; Stephens, Jonathan C. ; Greene, Daniel ; Downes, Kate ; Kelly, Anne M. ; Lentaigne, Claire ; Astle, William J. ; Huizinga, Eric G. ; Nurden, Paquita ; Papadia, Sofia ; Peerlinck, Kathelijne ; Penkett, Christopher J. ; Perry, David J. ; Roughley, Catherine ; Simeoni, Ilenia ; Stirrups, Kathleen ; Hart, Daniel P. ; Tait, R.Campbell ; Mumford, Andrew D. ; Laffan, Michael A. ; Freson, Kathleen ; Ouwehand, Willem H. ; Kunishima, Shinji ; Turro, ErnestBlood, 2017-01, Vol.129 (4), p.520-524 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Multiple pathways differentially regulate global oxidative stress responses in fission yeastChen, Dongrong ; Wilkinson, Caroline R M ; Watt, Stephen ; Penkett, Christopher J ; Toone, W Mark ; Jones, Nic ; Bähler, Jürg Weissman, JonathanMolecular biology of the cell, 2008-01, Vol.19 (1), p.308-317 [Periódico revisado por pares]United States: The American Society for Cell BiologyTexto completo disponível |