Výsledky vyhledávání - Jonathan Stephens

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  1. 1
    Statistical methods of DNA sequence analysis: detection of intragenic recombination or gene conversion.

    Statistical methods of DNA sequence analysis: detection of intragenic recombination or gene conversion. Autor Jonathan Stephens

    Vydáno 1985
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  2. 2
    Estimation of heterozygosity for single-probe multilocus DNA fingerprints.

    Estimation of heterozygosity for single-probe multilocus DNA fingerprints. Autor Jonathan Stephens, Dennis A. Gilbert, Naoya Yuhki, Stephen J. O’Brien

    Vydáno 1992
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  3. 3
    Complex promoter and coding region β <sub>2</sub> -adrenergic receptor haplotypes alter receptor expression and predict <i>in vivo</i> responsiveness

    Complex promoter and coding region β <sub>2</sub> -adrenergic receptor haplotypes alter receptor expression and predict <i>in vivo</i> responsiveness Autor Connie M. Drysdale, Dennis W. McGraw, Catharine B. Stack, Jonathan Stephens, Richard Judson, Krishnan Nandabalan, Kevin Arnold, Gualberto Ruaño, Stephen B. Liggett

    Vydáno 2000
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  4. 4
    Mapping the platelet profile for functional genomic studies and demonstration of the effect size of the GP6 locus

    Mapping the platelet profile for functional genomic studies and demonstration of the effect size of the GP6 locus Autor Chris I. Jones, Stephen F. Garner, Will Angenent, Adam S. Bernard, Carlo Berzuini, Philippa Burns, Richard W. Farndale, John Hogwood, Angela Rankin, Jonathan Stephens, Brian D. M. Tom, J. Walton, Frank Dudbridge, Willem H. Ouwehand, Alison H. Goodall

    Vydáno 2007
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  5. 5
    A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbβ3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

    A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbβ3 integrin and cosegregates dominantly with abnormal proplatelet... Autor Cédric Ghevaert, Alexandre Salsmann, Nicholas A. Watkins, Elisabeth Schaffner‐Reckinger, Angela Rankin, Stephen F. Garner, Jonathan Stephens, Graham A. Smith, Najet Debili, William Vainchenker, Philip G. de Groot, James A. Huntington, Michael Laffan, Nelly Kieffer, Willem H. Ouwehand

    Vydáno 2007
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  6. 6
    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia Autor Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Mégy, María E Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro

    Vydáno 2020
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  7. 7
    Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

    Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis Autor Thomas McKerrell, Naomi Park, Thaidy Moreno-Rodriguez, Carolyn Grove, Hannes Ponstingl, Jonathan Stephens, Charles Crawley, Jenny I. O. Craig, Mike Scott, Clare Hodkinson, E. Joanna Baxter, Roland Rad, Duncan R. Forsyth, Michael A. Quail, Eleftheria Zeggini, Willem H. Ouwehand, Ignacio Varela, George S. Vassiliou

    Vydáno 2015
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  8. 8
    A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume

    A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume Autor Christa Meisinger, Holger Prokisch, Christian Gieger, Nicole Soranzo, Divya Mehta, Dieter Rosskopf, Peter Lichtner, Norman Klopp, Jonathan Stephens, Nicholas A. Watkins, Panos Deloukas, Andreas Greinacher, Wolfgang Köenig, Matthias Nauck, Christian Rimmbach, Henry Völzke, Annette Peters, Thomas Illig, Willem H. Ouwehand, Thomas Meitinger, H.-Erich Wichmann, Angela Döring

    Vydáno 2008
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  9. 9
    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

    Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome Autor Cornelis A. Albers, Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie‐Christine Alessi, Paul Bertone, Gregory E. Jordan, Ross Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J. Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A. Smethurst, Jonathan Stephens, Katrin Voß, Alan T. Nurden, Augusto Rendon, Paquita Nurden, Willem H. Ouwehand

    Vydáno 2011
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  10. 10
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing Autor Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren Carss

    Vydáno 2018
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  11. 11
    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia Autor Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, William J. Astle, Eric G. Huizinga, Paquita Nurden, Sofia Papadia, Kathelijne Peerlinck, Christopher J. Penkett, David J. Perry, Catherine Roughley, Ilenia Simeoni, Kathleen Stirrups, Daniel P. Hart, Robert C. Tait, Andrew Mumford, Michael Laffan, Kathleen Freson, Willem H. Ouwehand, Shinji Kunishima, Ernest Turro

    Vydáno 2016
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  12. 12
    A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways

    A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways Autor Chris I. Jones, Sarah Bray, Stephen F. Garner, Jonathan Stephens, Bernard de Bono, Will Angenent, David Bentley, Philippa Burns, Alison J. Coffey, Panos Deloukas, M. E. Earthrowl, Richard W. Farndale, Marc Hoylaerts, Kerstin Koch, Angela Rankin, Catherine M. Rice, Jane Rogers, Nilesh J. Samani, Michael Steward, Adam Walker, Nicholas A. Watkins, Jan-Willem Akkerman, Frank Dudbridge, Alison H. Goodall, Willem H. Ouwehand

    Vydáno 2009
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  13. 13
    Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function

    Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function Autor Alison H. Goodall, Philippa Burns, Isabelle I. Salles, Iain C. Macaulay, Chris I. Jones, Diego Ardissino, Bernard de Bono, Sarah Bray, Hans Deckmyn, Frank Dudbridge, Desmond J. Fitzgerald, Stephen F. Garner, Arief Gusnanto, Kerstin Koch, Cordelia Langford, Marie O’Connor, Catherine M. Rice, Derek L. Stemple, Jonathan Stephens, Mieke D. Trip, Jaap Jan Zwaginga, Nilesh J. Samani, Nicholas A. Watkins, Patricia B. Maguire, Willem H. Ouwehand

    Vydáno 2010
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  14. 14
    Haplotype Variation and Linkage Disequilibrium in 313 Human Genes

    Haplotype Variation and Linkage Disequilibrium in 313 Human Genes Autor Jonathan Stephens, Julie A. Schneider, Debra A. Tanguay, Julie Choi, Tara Acharya, Scott E. Stanley, Ruhong Jiang, Chad Messer, Anne Chew, Jin-Hua Han, Jicheng Duan, Janet L. Carr, Min Seob Lee, Beena Koshy, Anil Kumar, Ge Zhang, William R. Newell, Andreas Windemuth, Chuanbo Xu, Ted Kalbfleisch, Sandra L. Shaner, Kevin Arnold, Vincent Schulz, Connie M. Drysdale, Krishnan Nandabalan, Richard Judson, Gualberto Ruaño, Gerald F. Vovis

    Vydáno 2001
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  15. 15
    Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

    Germline mutations in the transcription factor IKZF5 cause thrombocytopenia Autor Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Rémi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean‐Claude Bordet, Corinne Armari‐Alla, Wendy N. Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Mégy, Sofia Papadia, Christopher J. Penkett, Matthew C. Sims, Luca Stefanucci, Jonathan Stephens, Randy J. Read, Kathleen Stirrups, Willem H. Ouwehand, Michael Laffan, Mattia Frontini, Kathleen Freson, Ernest Turro

    Vydáno 2019
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  16. 16
    A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

    A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function Autor Nicole Soranzo, Augusto Rendon, Christian Gieger, Chris I. Jones, Nicholas A. Watkins, Stephan Menzel, Angela Döring, Jonathan Stephens, Holger Prokisch, Wendy N. Erber, Simon Potter, Sarah Bray, Philippa Burns, Jennifer Jolley, Mario Falchi, Brigitte Kühnel, Jeanette Erdmann, Heribert Schunkert, Nilesh J. Samani, Thomas Illig, Stephen F. Garner, Angela Rankin, Christa Meisinger, John R. Bradley, Swee Lay Thein, Alison H. Goodall, Tim D. Spector, Panos Deloukas, Willem H. Ouwehand

    Vydáno 2009
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  17. 17
    Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

    Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome Autor Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Kathleen Freson, Jonathan Stephens, Peter A. Smethurst, Jennifer D. Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone, Martijn H. Breuning, Najet Debili, Panos Deloukas, Rémi Favier, Janine Fiedler, Catherine M. Hobbs, Ni Huang, Matthew E. Hurles, Graham Kiddle, Ingrid P.C. Krapels, Paquita Nurden, Claudia Ruivenkamp, Jennifer G. Sambrook, Kenneth Smith, Derek L. Stemple, Gabriele Strauß, Chantal Thys, Chris Van Geet, Ruth Newbury‐Ecob, Willem H. Ouwehand, Cédric Ghevaert

    Vydáno 2012
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  18. 18
    Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

    Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders Autor Kate Downes, Karyn Mégy, Daniel Duarte, Minka J. A. Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V. V. Deevi, Jonathan Stephens, Rutendo Mapeta, Salih Tuna, Namir Al Hasso, Martin Besser, Nichola Cooper, Louise C. Daugherty, Nick Gleadall, Daniel Greene, Matthias Haimel, Howard Martin, Sofia Papadia, Shoshana Revel‐Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, Willem H. Ouwehand, Stephen Abbs, Michael Laffan, Ernest Turro, Ilenia Simeoni, Andrew Mumford, Yvonne Henskens, Ingrid Pabinger, Keith Gomez, Kathleen Freson

    Vydáno 2019
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  19. 19
    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders Autor Sarah K. Westbury, Ernest Turro, Daniel Greene, Claire Lentaigne, Anne M. Kelly, Tadbir K. Bariana, Ilenia Simeoni, Xavier Pillois, Antony Attwood, Steve Austin, Sjoert B.G. Jansen, Tamam Bakchoul, Abi Crisp-Hihn, Wendy N. Erber, Rémi Favier, Nicola Foad, Michael Gattens, Jennifer D. Jolley, Ri Liesner, Stuart Meacham, Carolyn M. Millar, Alan T. Nurden, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Sol Schulman, Harald Schulze, Jonathan Stephens, Bruce Furie, Peter N. Robinson, Chris Van Geet, Augusto Rendon, Keith Gomez, Michael Laffan, Michele P. Lambert, Paquita Nurden, Willem H. Ouwehand, Sylvia Richardson, Andrew Mumford, Kathleen Freson

    Vydáno 2015
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  20. 20
    Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

    Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses Autor Sarah Spencer, Sevgi Köstel Bal, William Egner, Hana Lango Allen, Syed Irfan Raza, Chi A., M Gürel, Yuan Zhang, Guangping Sun, R.A. Sabroe, Daniel Greene, William Rae, Tala Shahin, Katarzyna Kania, Rico Chandra Ardy, Marini Thian, Emily Staples, Annika Pecchia-Bekkum, William P. M. Worrall, Jonathan Stephens, Matthew A. Brown, Salih Tuna, Melanie York, Fiona Shackley, D.P. Kerrin, Ravishankar Sargur, Alison M. Condliffe, Hamid Nawaz Tipu, Hye Sun Kuehn, Sergio D. Rosenzweig, Ernest Turro, Simon Tavaré, Adrian J. Thrasher, Duncan I. Jodrell, Kenneth G. C. Smith, Kaan Boztuğ, Joshua D. Milner, James Thaventhiran

    Vydáno 2019
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