Hasil Pencarian - Kate Downes

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  1. 1
    De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

    De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family oleh Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson

    Diterbitkan 2019-10-01
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  2. 2
    SNP allele frequency estimation in DNA pools and variance components analysis

    SNP allele frequency estimation in DNA pools and variance components analysis oleh Kate Downes, Bryan J. Barratt, Pelin Akan, Sue J. Bumpstead, Stacey D. Taylor, David G. Clayton, Panos Deloukas

    Diterbitkan 2004-05-01
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  3. 3
    Reduced expression of IFIH1 is protective for type 1 diabetes.

    Reduced expression of IFIH1 is protective for type 1 diabetes. oleh Kate Downes, Marcin Pekalski, Karen L Angus, Matthew Hardy, Sarah Nutland, Deborah J Smyth, Neil M Walker, Chris Wallace, John A Todd

    Diterbitkan 2010-09-01
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  4. 4
    A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

    A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder oleh Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan

    Diterbitkan 2022-02-01
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  5. 5
    A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

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

    Diterbitkan 2019-05-01
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  6. 6
    Platelet Receptor Glycoprotein VI-Dimer Is Overexpressed in Patients with Atrial Fibrillation at High Risk of Ischemic Stroke

    Platelet Receptor Glycoprotein VI-Dimer Is Overexpressed in Patients with Atrial Fibrillation at High Risk of Ischemic Stroke oleh Isuru Induruwa, Carly Kempster, Patrick Thomas, Harriet McKinney, Jean-Daniel Malcor, Arkadiusz Bonna, Joana Batista, Kenji Soejima, Willem Ouwehand, Richard W. Farndale, Kate Downes, Masaaki Moroi, Stephanie M. Jung, Elizabeth A. Warburton

    Diterbitkan 2023-10-01
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  7. 7
    Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results.

    Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results. oleh Isuru Induruwa, Harriet McKinney, Carly Kempster, Patrick Thomas, Joana Batista, Jean-Daniel Malcor, Arkadiusz Bonna, Joanne McGee, Elaine Bumanlag-Amis, Karola Rehnstrom, Sophie Ashford, Kenji Soejima, Willem Ouwehand, Richard Farndale, Kate Downes, Elizabeth Warburton, Masaaki Moroi, Stephanie Jung

    Diterbitkan 2022-01-01
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  8. 8
    IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.

    IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. oleh Lisa M Maier, Christopher E Lowe, Jason Cooper, Kate Downes, David E Anderson, Christopher Severson, Pamela M Clark, Brian Healy, Neil Walker, Cristin Aubin, Jorge R Oksenberg, Stephen L Hauser, Alistair Compston, Stephen Sawcer, International Multiple Sclerosis Genetics Consortium, Philip L De Jager, Linda S Wicker, John A Todd, David A Hafler

    Diterbitkan 2009-01-01
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  9. 9
    High-throughput elucidation of thrombus formation reveals sources of platelet function variability

    High-throughput elucidation of thrombus formation reveals sources of platelet function variability oleh Johanna P. van Geffen, Sanne L.N. Brouns, Joana Batista, Harriet McKinney, Carly Kempster, Magdolna Nagy, Suthesh Sivapalaratnam, Constance C.F.M.J. Baaten, Nikki Bourry, Mattia Frontini, Kerstin Jurk, Manuela Krause, Daniele Pillitteri, Frauke Swieringa, Remco Verdoold, Rachel Cavill, Marijke J. E. Kuijpers, Willem H. Ouwehand, Kate Downes, Johan W.M. Heemskerk

    Diterbitkan 2019-06-01
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  10. 10
    Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

    Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease oleh Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, Nicole Soranzo

    Diterbitkan 2021-04-01
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  11. 11
    Chromosome contacts in activated T cells identify autoimmune disease candidate genes

    Chromosome contacts in activated T cells identify autoimmune disease candidate genes oleh Oliver S. Burren, Arcadio Rubio García, Biola-Maria Javierre, Daniel B. Rainbow, Jonathan Cairns, Nicholas J. Cooper, John J. Lambourne, Ellen Schofield, Xaquin Castro Dopico, Ricardo C. Ferreira, Richard Coulson, Frances Burden, Sophia P. Rowlston, Kate Downes, Steven W. Wingett, Mattia Frontini, Willem H. Ouwehand, Peter Fraser, Mikhail Spivakov, John A. Todd, Linda S. Wicker, Antony J. Cutler, Chris Wallace

    Diterbitkan 2017-09-01
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  12. 12
    Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

    Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses oleh Rinske van Oorschot, Anna E. Marneth, Saskia M. Bergevoet, Maaike G.J.M. van Bergen, Kathelijne Peerlinck, Claire E. Lentaigne, Carolyn M. Millar, Sarah K. Westbury, Remi Favier, Wendy N. Erber, Ernest Turro, Joop H. Jansen, Willem H. Ouwehand, Harriet L. McKinney, NIHR BioResource Collaborative Group, Kate Downes, Kathleen Freson, Bert A. van der Reijden

    Diterbitkan 2019-06-01
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  13. 13
    Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet function

    Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet function oleh Melissa V. Chan, Melissa A. Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E. Allan, Matthew L. Edin, Darryl C. Zeldin, Ginger L. Milne, Jonathan Stephens, Daniel Greene, Moghees Hanif, Valerie B. O'Donnell, Liang Dong, Michael G. Malkowski, Claire Lentaigne, Katherine Wedderburn, Matthew Stubbs, Kate Downes, Willem H. Ouwehand, Ernest Turro, NIHR BioResource, Daniel P. Hart, Kathleen Freson, Michael A. Laffan, Timothy D. Warner

    Diterbitkan 2020-04-01
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  14. 14
    Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas

    Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas oleh Luigi Grassi, Osagie G. Izuogu, Natasha A.N. Jorge, Denis Seyres, Mariona Bustamante, Frances Burden, Samantha Farrow, Neda Farahi, Fergal J. Martin, Adam Frankish, Jonathan M. Mudge, Myrto Kostadima, Romina Petersen, John J. Lambourne, Sophia Rowlston, Enca Martin-Rendon, Laura Clarke, Kate Downes, Xavier Estivill, Paul Flicek, Joost H.A. Martens, Marie-Laure Yaspo, Hendrik G. Stunnenberg, Willem H. Ouwehand, Fabio Passetti, Ernest Turro, Mattia Frontini

    Diterbitkan 2020-07-01
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  15. 15
    Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

    Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome oleh Warren A. Cheung, Xiaojian Shao, Andréanne Morin, Valérie Siroux, Tony Kwan, Bing Ge, Dylan Aïssi, Lu Chen, Louella Vasquez, Fiona Allum, Frédéric Guénard, Emmanuelle Bouzigon, Marie-Michelle Simon, Elodie Boulier, Adriana Redensek, Stephen Watt, Avik Datta, Laura Clarke, Paul Flicek, Daniel Mead, Dirk S. Paul, Stephan Beck, Guillaume Bourque, Mark Lathrop, André Tchernof, Marie-Claude Vohl, Florence Demenais, Isabelle Pin, Kate Downes, Hendrick G. Stunnenberg, Nicole Soranzo, Tomi Pastinen, Elin Grundberg

    Diterbitkan 2019-05-01
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  16. 16
    Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus

    Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus oleh David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S. de Vries, Nicholas L. Smith, CHARGE Hemostasis Working Group, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul

    Diterbitkan 2022-03-01
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  17. 17
    Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus

    Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus oleh David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S. de Vries, Nicholas L. Smith, CHARGE Hemostasis Working Group, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul

    Diterbitkan 2022-04-01
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  18. 18
    Recommendations for clinical interpretation of variants found in non-coding regions of the genome

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome oleh Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

    Diterbitkan 2022-07-01
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  19. 19
    A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

    A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology oleh Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine H. Collins, Kate Downes, Luigi Grassi, Jose A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle

    Diterbitkan 2023-08-01
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  20. 20
    Increased DNA methylation variability in type 1 diabetes across three immune effector cell types

    Increased DNA methylation variability in type 1 diabetes across three immune effector cell types oleh Dirk S. Paul, Andrew E. Teschendorff, Mary A.N. Dang, Robert Lowe, Mohammed I. Hawa, Simone Ecker, Huriya Beyan, Stephanie Cunningham, Alexandra R. Fouts, Anita Ramelius, Frances Burden, Samantha Farrow, Sophia Rowlston, Karola Rehnstrom, Mattia Frontini, Kate Downes, Stephan Busche, Warren A. Cheung, Bing Ge, Marie-Michelle Simon, David Bujold, Tony Kwan, Guillaume Bourque, Avik Datta, Ernesto Lowy, Laura Clarke, Paul Flicek, Emanuele Libertini, Simon Heath, Marta Gut, Ivo G Gut, Willem H. Ouwehand, Tomi Pastinen, Nicole Soranzo, Sabine E. Hofer, Beate Karges, Thomas Meissner, Bernhard O. Boehm, Corrado Cilio, Helena Elding Larsson, Åke Lernmark, Andrea K. Steck, Vardhman K. Rakyan, Stephan Beck, R. David Leslie

    Diterbitkan 2016-11-01
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