Hasil Pencarian - Gabrielle Wheway

  • Menampilkan 1 - 19 hasil dari 19
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  1. 1
    661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

    661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies oleh Gabrielle Wheway, Gabrielle Wheway, Gabrielle Wheway, Liliya Nazlamova, Liliya Nazlamova, Liliya Nazlamova, Dann Turner, Stephen Cross

    Diterbitkan 2019-04-01
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  2. 2
    Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

    Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project oleh Gabrielle Wheway, Hannah M. Mitchison

    Diterbitkan 2019-03-01
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  3. 3
    Signaling through the Primary Cilium

    Signaling through the Primary Cilium oleh Gabrielle Wheway, Liliya Nazlamova, John T. Hancock

    Diterbitkan 2018-02-01
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  4. 4
    Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

    Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project oleh Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium

    Diterbitkan 2019-08-01
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  5. 5
    A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

    A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa oleh Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill

    Diterbitkan 2019-03-01
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  6. 6
    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances oleh Verity Hartill, Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson

    Diterbitkan 2017-11-01
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  7. 7
    Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations

    Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations oleh Liliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, Varshini Karthik, Man-Kim Cheung, Jörn Lakowski, Gabrielle Wheway

    Diterbitkan 2022-09-01
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  8. 8
    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway oleh Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

    Diterbitkan 2015-06-01
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  9. 9
    Endometrial gland-specific progestagenassociated endometrial protein and cilia gene splicing changes in recurrent pregnancy loss

    Endometrial gland-specific progestagenassociated endometrial protein and cilia gene splicing changes in recurrent pregnancy loss oleh Jennifer E Pearson-Farr, Gabrielle Wheway, Maaike S A Jongen, Patricia Goggin, Rohan M Lewis, Ying Cheong, Jane K Cleal

    Diterbitkan 2022-09-01
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  10. 10
    Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1

    Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1 oleh Katarzyna Szymanska, Karsten Boldt, Clare V Logan, Matthew Adams, Philip A Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A Johnson

    Diterbitkan 2022-02-01
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  11. 11
    Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia

    Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia oleh Jelmer Legebeke, Jelmer Legebeke, Katie L. Horton, Katie L. Horton, Katie L. Horton, Claire L. Jackson, Claire L. Jackson, Claire L. Jackson, Janice Coles, Janice Coles, Janice Coles, Amanda Harris, Amanda Harris, Amanda Harris, Htoo A. Wai, John W. Holloway, John W. Holloway, Gabrielle Wheway, Gabrielle Wheway, Diana Baralle, Diana Baralle, Jane S. Lucas, Jane S. Lucas, Jane S. Lucas

    Diterbitkan 2022-06-01
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  12. 12
    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia oleh Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas

    Diterbitkan 2021-09-01
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  13. 13
    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly oleh William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle

    Diterbitkan 2021-02-01
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  14. 14
    Genomic programming of IRF4-expressing human Langerhans cells

    Genomic programming of IRF4-expressing human Langerhans cells oleh Sofia Sirvent, Andres F. Vallejo, James Davies, Kalum Clayton, Zhiguo Wu, Jeongmin Woo, Jeremy Riddell, Virendra K. Chaudhri, Patrick Stumpf, Liliya Angelova Nazlamova, Gabrielle Wheway, Matthew Rose-Zerilli, Jonathan West, Mario Pujato, Xiaoting Chen, Christopher H. Woelk, Ben MacArthur, Michael Ardern-Jones, Peter S. Friedmann, Matthew T. Weirauch, Harinder Singh, Marta E. Polak

    Diterbitkan 2020-01-01
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  15. 15
    The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

    The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum oleh Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M. Freke, Abdallah Hasaballah, Claire L. Jackson, Mai A. Mohamed, Reda Abu Nema, Mitali P. Patel, Reuben J. Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah M. Mitchison, Jane S. Lucas

    Diterbitkan 2023-04-01
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  16. 16
    Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19

    Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19 oleh Rebekah Penrice-Randal, Rebekah Penrice-Randal, Xiaofeng Dong, Andrew George Shapanis, Aaron Gardner, Nicholas Harding, Jelmer Legebeke, Jelmer Legebeke, Jenny Lord, Andres F. Vallejo, Stephen Poole, Stephen Poole, Nathan J. Brendish, Nathan J. Brendish, Catherine Hartley, Anthony P. Williams, Gabrielle Wheway, Marta E. Polak, Marta E. Polak, Fabio Strazzeri, James P. R. Schofield, Paul J. Skipp, Paul J. Skipp, Julian A. Hiscox, Julian A. Hiscox, Julian A. Hiscox, Tristan W. Clark, Tristan W. Clark, Diana Baralle, Diana Baralle

    Diterbitkan 2022-09-01
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  17. 17
    Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19

    Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19 oleh Jelmer Legebeke, Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, Andres F. Vallejo, Stephen Poole, Stephen Poole, Nathan J. Brendish, Nathan J. Brendish, Xiaofeng Dong, Catherine Hartley, John W. Holloway, John W. Holloway, Jane S. Lucas, Jane S. Lucas, Anthony P. Williams, Gabrielle Wheway, Fabio Strazzeri, Aaron Gardner, James P. R. Schofield, Paul J. Skipp, Paul J. Skipp, Julian A. Hiscox, Julian A. Hiscox, Julian A. Hiscox, Marta E. Polak, Marta E. Polak, Tristan W. Clark, Tristan W. Clark, Diana Baralle, Diana Baralle

    Diterbitkan 2022-05-01
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  18. 18
    Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

    Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa oleh Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako

    Diterbitkan 2018-10-01
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  19. 19
    CiliaCarta: An integrated and validated compendium of ciliary genes.

    CiliaCarta: An integrated and validated compendium of ciliary genes. oleh Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen

    Diterbitkan 2019-01-01
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