Hasil Pencarian - NIHR BioResource

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  1. 1
    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data oleh James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Andy G. Lynch

    Diterbitkan 2018-01-01
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  2. 2
    Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease

    Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with... oleh Christian P. Selinger, Robyn Laube, Helen Steed, Matthew Brookes, NIHR BioResource, Rupert W. L. Leong

    Diterbitkan 2023-08-01
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  3. 3
    PIGO deficiency: palmoplantar keratoderma and novel mutations

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

    Diterbitkan 2017-05-01
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  4. 4
    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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  5. 5
    Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

    Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate oleh Alba Sanchis‐Juan, Marcia A. Hasenahuer, James A. Baker, Amy McTague, Katy Barwick, Manju A. Kurian, Sofia T. Duarte, NIHR BioResource, Keren J. Carss, Janet Thornton, F. Lucy Raymond

    Diterbitkan 2020-07-01
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  6. 6
    Reduced circulating BMP9 and pBMP10 in hospitalized COVID‐19 patients

    Reduced circulating BMP9 and pBMP10 in hospitalized COVID‐19 patients oleh Benjamin J. Dunmore, Paul D. Upton, Kate Auckland, Romit J. Samanta, CITIID‐NIHR BioResource COVID‐19 Collaboration, The EpiCov Database, Paul A. Lyons, Kenneth G. C. Smith, Stefan Gräf, Charlotte Summers, Nicholas W. Morrell

    Diterbitkan 2023-01-01
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  7. 7
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans oleh Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery

    Diterbitkan 2020-04-01
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  8. 8
    Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans oleh Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery

    Diterbitkan 2020-07-01
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  9. 9
    Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

    Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia oleh Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Daniel Greene, Benjamin Jenkins, Luigi Grassi, Denis Seyres, Frances Burden, Deborah Whitehorn, Olga Shamardina, Sofia Papadia, Keith Gomez, NIHR BioResource, Chris Van Geet, Albert Koulman, Willem H. Ouwehand, Cedric Ghevaert, Mattia Frontini, Ernest Turro, Kathleen Freson

    Diterbitkan 2019-05-01
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  10. 10
    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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  11. 11
    Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

    Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors oleh Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Veronique Baccini, Lea Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand-Oumoussa, Céline Falaise, Rémi Favier, Willem H. Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, NIHR BioResource, Alan T. Nurden, Paquita Nurden, Kathleen Freson, David-Alexandre Trégouët, Hana Raslova, Marie-Christine Alessi

    Diterbitkan 2017-02-01
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  12. 12
    GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

    GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements oleh Peter H. Dixon, Adam P. Levine, Inês Cebola, Melanie M. Y. Chan, Aliya S. Amin, Anshul Aich, Monika Mozere, Hannah Maude, Alice L. Mitchell, Jun Zhang, NIHR BioResource, Genomics England Research Consortium Collaborators, Jenny Chambers, Argyro Syngelaki, Jennifer Donnelly, Sharon Cooley, Michael Geary, Kypros Nicolaides, Malin Thorsell, William M. Hague, Maria Cecilia Estiu, Hanns-Ulrich Marschall, Daniel P. Gale, Catherine Williamson

    Diterbitkan 2022-08-01
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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
    Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

    Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH oleh Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

    Diterbitkan 2021-06-01
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  15. 15
    Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

    Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH oleh Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

    Diterbitkan 2021-05-01
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  16. 16
    Levels of soluble complement regulators predict severity of COVID-19 symptoms

    Levels of soluble complement regulators predict severity of COVID-19 symptoms oleh Anna L. Tierney, Anna L. Tierney, Wajd Mohammed Alali, Thomas Scott, Karen S. Rees-Unwin, CITIID-NIHR BioResource COVID-19 Collaboration, Simon J. Clark, Simon J. Clark, Simon J. Clark, Richard D. Unwin, Stephen Baker, John Bradley, Patrick Chinnery, Daniel Cooper, Gordon Dougan, Ian Goodfellow, Ravindra Gupta, Nathalie Kingston, Paul J. Lehner, Paul A. Lyons, Nicholas J. Matheson, Caroline Saunders, Kenneth G. C. Smith, Charlotte Summers, James Thaventhiran, M. Estee Torok, Mark R. Toshner, Michael P. Weekes, Gisele Alvio, Sharon Baker, Areti Bermperi, Karen Brookes, Ashlea Bucke, Jo Calder, Laura Canna, Cherry Crucusio, Isabel Cruz, Ranalie de Jesus, Katie Dempsey, Giovanni Di Stephano, Jason Domingo, Anne Elmer, Julie Harris, Sarah Hewitt, Heather Jones, Sherly Jose, Jane Kennet, Yvonne King, Jenny Kourampa, Emily Li, Caroline McMahon, Anne Meadows, Vivien Mendoza, Criona O’Brien, Charmain Ocaya, Ciro Pasquale, Marlyn Perales, Jane Price, Rebecca Rastall, Carla Ribeiro, Jane Rowlands, Valentina Ruffolo, Hugo Tordesillas, Phoebe Vargas, Bensi Vergese, Laura Watson, Jieniean Worsley, Julie-Ann Zerrudo, Laura Bergamashi, Ariana Betancourt, Georgie Bower, Ben Bullman, Chiara Cossetti, Aloka De Sa, Benjamin J. Dunmore, Maddie Epping, Stuart Fawke, Stefan Gräf, Richard Grenfell, Andrew Hinch, Josh Hodgson, Christopher Huang, Oisin Huhn, Kelvin Hunter, Isobel Jarvis, Emma Jones, Maša Josipović, Ekaterina Legchenko, Daniel Lewis, Joe Marsden, Jennifer Martin, Federica Mescia, Ciara O’Donnell, Ommar Omarjee, Marianne Perera, Linda Pointon, Nicole Pond, Nathan Richoz, Nika Romashova, Natalia Savoinykh, Rahul Sharma, Joy Shih, Mateusz Strezlecki, Rachel Sutcliffe, Tobias Tilly, Zhen Tong, Carmen Treacy, Lori Turner, Jennifer Wood, Marta Wylot, John Allison, Heather Biggs, John R. Bradley, Helen Butcher, Daniela Caputo, Matt Chandler, Patrick Chinnery, Debbie Clapham-Riley, Eleanor Dewhurst, Christian Fernandez, Anita Furlong, Barbara Graves, Jennifer Gray, Sabine Hein, Tasmin Ivers, Emma Le Gresley, Rachel Linger, Mary Kasanicki, Rebecca King, Nathalie Kingston, Sarah Meloy, Alexei Moulton, Francesca Muldoon, Nigel Ovington, Sofia Papadia, Christopher J. Penkett, Isabel Phelan, Venkatesh Ranganath, Roxana Paraschiv, Abigail Sage, Jennifer Sambrook, Ingrid Scholtes, Katherine Schon, Hannah Stark, Kathleen E. Stirrups, Paul Townsend, Neil Walker, Jennifer Webster, Mayurun Selvan, Petra Polgarova, Sarah L. Caddy, Laura G. Caller, Yasmin Chaudhry, Martin D. Curran, Theresa Feltwell, Stewart Fuller, Iliana Georgana, Grant Hall, William L. Hamilton, Myra Hosmillo, Charlotte J. Houldcroft, Rhys Izuagbe, Aminu S. Jahun, Fahad A. Khokhar, Anna G. Kovalenko, Luke W. Meredith, Surendra Parmar, Malte L. Pinckert, Anna Yakovleva, Emily C. Horner, Lucy Booth, Alexander Ferreira, Rebecca Boston, Robert Hughes, Juan Carlos Yam Puc, Nonantzin Beristain-Covarrubias, Maria Rust, Thevinya Gurugama, Lihinya Gurugama, Thomas Mulroney, Sarah Spencer, Zhaleh Hosseini, Kate Williamson

    Diterbitkan 2022-10-01
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