المؤلفون: Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh K Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin W Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alex von Kriegsheim, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A Macleod, Don S Urquhart, Stefan Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie PI Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill

مصطلحات موضوعية: Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46, Cilia, Centrioles, Animals, Mice, Knockout, Humans, Ciliary Motility Disorders, Tubulin, Protein Isoforms, Mutation, Female, Male, Axoneme

Relation: 2381/25977013.v1; https://figshare.com/articles/journal_contribution/Ciliopathy_patient_variants_reveal_organelle-specific_functions_for_TUBB4B_in_axonemal_microtubules/25977013

الاتاحة: https://figshare.com/articles/journal_contribution/Ciliopathy_patient_variants_reveal_organelle-specific_functions_for_TUBB4B_in_axonemal_microtubules/25977013

المؤلفون: Jennifer E Pearson-Farr, Gabrielle Wheway, Maaike S A Jongen, Patricia Goggin, Rohan M Lewis, Ying Cheong, Jane K Cleal

المصدر: Reproduction and Fertility, Vol 3, Iss 3, Pp 162-172 (2022)

مصطلحات موضوعية: fertility, gland secretions, exon skipping, gene transcription, uterine environment, Reproduction, QH471-489, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://raf.bioscientifica.com/view/journals/raf/3/3/RAF-22-0002.xml; https://doaj.org/toc/2633-8386

URL الوصول: https://doaj.org/article/3de3c65fc602463b881e38ac265d6268

المؤلفون: 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

المصدر: ERJ Open Research, Vol 9, Iss 2 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://openres.ersjournals.com/content/9/2/00714-2022.full; https://doaj.org/toc/2312-0541

URL الوصول: https://doaj.org/article/f2c51f09226b40409f9747ca8c6802ba

المؤلفون: 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

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-21 (2021)

مصطلحات موضوعية: Primary ciliary dyskinesia, Non-CF bronchiectasis, Whole genome sequencing, Diagnosis, Gene discovery, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/225939c427e1410e88b00eb4517acfc3

المؤلفون: Liliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, Varshini Karthik, Man-Kim Cheung, Jörn Lakowski, Gabrielle Wheway

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: cilia, ciliopathies, retinitis pigmentosa, pre-mRNA splicing, photoreceptor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1009430/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/21338bf3ff0a4920a2d4e2299925a847

المؤلفون: Rebekah Penrice-Randal, Xiaofeng Dong, Andrew George Shapanis, Aaron Gardner, Nicholas Harding, Jelmer Legebeke, Jenny Lord, Andres F. Vallejo, Stephen Poole, Nathan J. Brendish, Catherine Hartley, Anthony P. Williams, Gabrielle Wheway, Marta E. Polak, Fabio Strazzeri, James P. R. Schofield, Paul J. Skipp, Julian A. Hiscox, Tristan W. Clark, Diana Baralle

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: COVID-19, Critical Care, biomarkers, prognosis, topology, transcriptome, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.988685/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/919dbb10fdda47859e6b536e0d1cbd3a

المؤلفون: Jelmer Legebeke, Katie L. Horton, Claire L. Jackson, Janice Coles, Amanda Harris, Htoo A. Wai, John W. Holloway, Gabrielle Wheway, Diana Baralle, Jane S. Lucas

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: primary nasal epithelium, air-liquid interface culture, airway cilia, physiological analysis, whole transcriptome analysis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.907511/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/a2b10b129499446894bc09b1f234580b

المؤلفون: 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

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: COPB1, COPI, β-COP, Microcephaly, Cataract, Xenopus model, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc

المؤلفون: Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, Andres F. Vallejo, Stephen Poole, Nathan J. Brendish, Xiaofeng Dong, Catherine Hartley, John W. Holloway, Jane S. Lucas, Anthony P. Williams, Gabrielle Wheway, Fabio Strazzeri, Aaron Gardner, James P. R. Schofield, Paul J. Skipp, Julian A. Hiscox, Marta E. Polak, Tristan W. Clark, Diana Baralle

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: COVID-19, influenza, adaptive, innate, immune response, blood, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.853265/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/f46b555a1c314f3fb50bd6cabe819aa8

المؤلفون: Katarzyna Szymanska, Karsten Boldt, Clare V Logan, Matthew Adams, Philip A Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A Johnson

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: MKS1, primary cilia, Wnt signalling, beta-catenin, UBE2E1, ciliopathies, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/57593; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/f0a156367f2e4541b9bddcf0e0c9f9f4

المؤلفون: 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

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b437083920e842f086e6d17c31b3b048

المؤلفون: Gabrielle Wheway (11474889), N. Simon Thomas (11474892), Mary Carroll (3773308), Janice Coles (11474895), Regan Doherty (11474898), Patricia Goggin (11474901), Ben Green (137690), Amanda Harris (4913239), David Hunt (3499), Claire L. Jackson (11474904), Jenny Lord (2817973), Vito Mennella (11474907), James Thompson (88730), Woolf T. Walker (7743596), Jane S. Lucas (7743599)

مصطلحات موضوعية: Genetics, Primary ciliary dyskinesia, Non-CF bronchiectasis, Whole genome sequencing, Diagnosis, Gene discovery

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Whole_genome_sequencing_in_the_diagnosis_of_primary_ciliary_dyskinesia/16674816

الاتاحة: https://doi.org/10.6084/m9.figshare.16674816.v1

المؤلفون: 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

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/39722a7de98941cab07e48fc0b8400de

المؤلفون: Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: 100,000 Genome Project, ciliopathies, cilia, genomics, genetics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00569/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/a92dec07206249ec928121126fcaf594

المؤلفون: Gabrielle Wheway, Liliya Nazlamova, Dann Turner, Stephen Cross

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: retina, photoreceptor, cilia, ciliopathy, cell model, retinitis pigmentosa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00308/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3bac1386a9d74266895ad4dbd1dc7390

المؤلفون: Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: genetic disease, modeling, pathogenicity, missense, pre-mRNA splicing factor, retinitis pigmentosa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00248/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ab4aba8484ab4b1fb085fa4764f3322d

المؤلفون: Gabrielle Wheway, Hannah M. Mitchison

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: Genome Project, ciliopathies, cilia, genomics, genetics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00127/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1ea56633eb1b4ea7b88ce531230e760b

المؤلفون: Sunayna Best, Chris F. Inglehearn, Christopher M. Watson, Carmel Toomes, Gabrielle Wheway, Colin A. Johnson

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:5-8

مصطلحات موضوعية: Cohort Studies, Genetics, Humans, Ciliopathies, United Kingdom, Genetics (clinical), Congenital Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a142acde3f80101ab26c0d9868b10ca0
https://doi.org/10.1002/ajmg.c.31965

المؤلفون: 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, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen

المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/206fb09f592a41a7979de76d71996765

المؤلفون: Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

المصدر: Disease Models & Mechanisms, Vol 8, Iss 6, Pp 527-541 (2015)

مصطلحات موضوعية: TMEM67, Meckelin, MKS3, Wnt signalling, Planar cell polarity, PCP, Stereocilia, Kinocilia, Primary cilia, Hair bundle, Ciliopathy, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/8/6/527; https://doaj.org/toc/1754-8411; https://doaj.org/toc/1754-8403

URL الوصول: https://doaj.org/article/c2ccea26d47b400d98e3ee479bab47c3