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1دورية أكاديمية
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
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المؤلفون: Silvia Beatriz Sanchez-Marco, Germaine Pierre, Peta Sharples, Seth Love, Kathryn Urankar, Tom Hilliard, Peter Lunt, Amanda Churchill, Riyaad Aungraheeta, Anthony Dallosso, Julie Evans, Maggie Williams, Anirban Majumdar
المصدر: Journal of Pediatric Neurology.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::08282681596e95d677f459d7e526c167
https://doi.org/10.1055/s-0042-1749671 -
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المؤلفون: Lucinda J Teoh, Ameenat Lola Solebo, Jugnoo S Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher Anderson, Karen Ansell, Samira Anwar, Isabel Ash, Jane Ashworth, Sher Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Zahabiyah Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, Michael Blundell, Kate Bolton, Ewoud Bos, Pamela Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne-Marie Childs, Jessy Choi, Vivi Choleva, Amanda Churchill, Michael Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann-Noor, Angela D'Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, Suzanne Dorey, Fiona Drimmie, Tina Duke, Gordon Dutton, Fiona Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, Julia Escardo-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen Haggerty, Paul Haigh, Julia Hale, Samer Hamada, Joanne Hancox, Kerry Hanna, Sian Harris, Christine Harrison, Phillip Harvey, Sophie Headland, Dominic Heath, Paul Heaton, Robert Henderson, Melanie Hingorani, Zoe Hirst, Claire Hogg, Wolfgang Hogler, Roger Holden, Janice Hoole, Karen Horridge, Delyth Howard, Rachel Howells, Vanessa Irvine, Clare Irving, Nicola Johnson, Ian Johnston, Alice Jollands, David Jones, Annie Joseph, Archana Joshi, Pugazhvendan Kandaswamy, Charles Kattakayam, Joseph Keenan, Anne Kelly, James Kersey, Awais Khan, Peng Khaw, Tina Kipioti, Sadia Kiran, Lesley Kneen, Ajay Kotagiri, Richa Kulshrestha, Rosemary Lambley, Tim Lavy, Joanna Lawson, Vicki Lee, Jane Leitch, Julie Lennon, Gabi Lipshen, Chris Lloyd, John Loftus, Tom Lomas, Vernon Long, Jane Mackinnon, Mary MacRae, Usman Mahmood, Anna Maino, Sarah Maling, David Mansfield, Elizabeth Marder, Richard Markham, Jane Marr, Catherine Marsh, Anna Maw, Eleanor McCartney, Helen McCullagh, Anna McDonald, Derek McPhee, Lawrence Miall, Shila Mistry, Benjamin Moate, Meyyammai Mohan, Helen Moore, Will Moore, Nicola Morgan, Claire Morton, Alan Mulvihill, Ranjit Nair, Bill Newman, Christiane Nitsch, Katy O'Connell, Ngozi Oluonye, Vittaldas Pai, Helen Palmer, Maria Papadopoulos, Shelagh Parkinson, Bina Parmar, Manoj Parulekar, Madhavi Parvathareddy, Dipesh Patel, Himanshu Patel, Kamal Patel, Philippa Pennefather, Flaudia Petrone, Marcus Pierrepoint, Rachel Pilling, Sally Pollard, Renata Puertas, Karen Pysden, Anthony Quinn, Philip Quinn, Diyaa Rachdan, Jyoti Raina, Saul Rajak, Laura Ramm, Catherine Rands, Tekki Rao, Mary Ray, Ashwin Reddy, Sheilla Reilly, Maralla Rekha, Greg Richardson, Andrew Riordan, Nerys Roberts, Helen Robertson, Gillian Robinson, Neil Rogers, Shakir Saeed, Caroline Salmon, Jenefer Sargent, Nagini Sarvananthan, Conrad Schmoll, James Self, P Sellar, Elaine Service, Ayad Shafiq, Shilpa Shah, Vinod Sharma, Jemima Sharp, Julia Shaw, Manjula Shenoy, Tamsin Sleep, Elisa Smit, Katherine Smyth, Lynne Speedwell, Katherine Spowart, P Standring, Paulo Stanga, Alison Stanley, Alan Stanton, David Steel, John Stephen, Catherine Stewart, Jessica Street, Sally Stucke, Shona Sutherland, Katya Tambe, Anamika Tandon, Alison Tappin, Kate Taylor, Robert Taylor, Katherine Teasdale, Maria Theodorou, Gareth Thomas, Megan Thomas, Paula Thomas, Dorothy Thompson, Stephen Thomson, Indrajit Thopte, Peter Tiffin, Angela Tillett, Heidi Traunecker, Maria Tsimpida, Vivienne Van Someren, Udupa Venkatesh, Zoe Vermaak, Michael Vincent, David Walker, Simon Walker, Deidre Walsh, Bronwyn Walters, Martin Ward Platt, Louise Watson, Patrick Watts, Siobhan West, Stephanie West, Cathy White, Joy White, Gabriel Whitlingum, Cathy Williams, Sophie Wilne, Janice Wilson, Chien Wong, Tamsin Woodbridge, Paul Wright, Martha Wyles, Philip Wylie
المصدر: The Lancet Child & Adolescent Health. 5:190-200
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, genetic structures, Cross-sectional study, Visual impairment, Vision Disorders, Blindness, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Epidemiology, Health care, Ethnicity, Developmental and Educational Psychology, medicine, Humans, Cumulative incidence, 030212 general & internal medicine, Child, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Childhood blindness, Infant, medicine.disease, United Kingdom, eye diseases, Cross-Sectional Studies, Socioeconomic Factors, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Observational study, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb76ac07278853c4e684ec9c0e07865
https://doi.org/10.1016/s2352-4642(20)30366-7 -
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المؤلفون: Nicola Jackson, Nervine Meshad, Amanda Churchill, Liliya Nazlamova, Samantha Hunt, Gabrielle Wheway
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: Spliceosome, PRPF31, missense, pre-mRNA splicing factor, lcsh:QH426-470, In silico, Biology, 03 medical and health sciences, 0302 clinical medicine, genetic disease, retinitis pigmentosa, Retinitis pigmentosa, medicine, Missense mutation, pathogenicity, Gene, 030304 developmental biology, Genetics, 0303 health sciences, modeling, medicine.disease, Penetrance, 3. Good health, Ciliopathy, lcsh:Genetics, 030221 ophthalmology & optometry
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec67c72ac6c8795c542b492e2be04fe
https://www.frontiersin.org/article/10.3389/fgene.2019.00248/full -
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المؤلفون: Amanda Churchill, Ann Starbuck, Anna Bienkowska
المصدر: International Journal of Ophthalmic Practice. 5:74-78
مصطلحات موضوعية: Systematic review, genetic structures, Blindness, business.industry, Visual impairment, MEDLINE, medicine, Conventional treatment, Optometry, medicine.symptom, medicine.disease, business, Orthoptic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::740e63e9ad2508fedd2a95324c2baa4b
https://doi.org/10.12968/ijop.2014.5.2.74 -
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المؤلفون: Derek Tole, Paraskevi Choleva, Amanda Churchill
المصدر: International Journal of Ophthalmic Practice. 5:50-52
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, Eye disease, fungi, Visual impairment, food and beverages, Signs and symptoms, Primary care, medicine.disease, Dermatology, eye diseases, Allergic conjunctivitis, Young age, Quality of life, Physical therapy, Medicine, sense organs, medicine.symptom, business, Vernal keratoconjunctivitis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::379cdbe33f7c4730a2588a68e143594c
https://doi.org/10.12968/ijop.2014.5.2.50 -
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المؤلفون: Julia Rankin, Philip Jardine, Brendan McLean, Siddharth Shah, Amanda Churchill, Neil Stoodley, Marjo S. van der Knaap, Yadlapalli Kumar, Patrizia Rizzu
المساهمون: Human genetics, Pediatric surgery, NCA - Childhood White Matter Diseases, Other departments, Neuroscience Campus Amsterdam - Childhood White Matter Diseases
المصدر: European Journal of Paediatric Neurology, 14(2), 182-187. W.B. Saunders Ltd
Shah, S, Kumar, Y, McLean, B, Churchill, A, Stoodley, N, Rankin, J, Rizzu, P, van der Knaap, M S & Jardine, P 2010, ' A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly ', European Journal of Paediatric Neurology, vol. 14, no. 2, pp. 182-187 . https://doi.org/10.1016/j.ejpn.2009.04.010
European journal of paediatric neurology : EJPN, 14(2), 182-187. W.B. Saunders Ltdمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Multiple Sclerosis, Adolescent, Migraine Disorders, Mutation, Missense, Cataract, Leukoencephalopathy, Young Adult, SDG 3 - Good Health and Well-being, Cataracts, medicine, Humans, Point Mutation, Missense mutation, Stroke, Index case, Glycoproteins, Genetics, business.industry, Dementia, Vascular, Exons, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Porencephaly, Migraine, Pediatrics, Perinatology and Child Health, Collagen, Neurology (clinical), Headaches, medicine.symptom, business
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المؤلفون: Mattias, Ormestad, Asa, Blixt, Amanda, Churchill, Tommy, Martinsson, Sven, Enerbäck, Peter, Carlsson
المصدر: Investigative ophthalmologyvisual science. 43(5)
مصطلحات موضوعية: Male, Mice, Inbred BALB C, Radiation Hybrid Mapping, Base Sequence, Sequence Homology, Amino Acid, Molecular Sequence Data, Mutation, Missense, Forkhead Transcription Factors, Cataract, Mice, Mutant Strains, DNA-Binding Proteins, Disease Models, Animal, Mice, Corneal Opacity, Phenotype, Haplotypes, Anterior Eye Segment, Animals, Humans, Female, Amino Acid Sequence, Eye Abnormalities, DNA Primers, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b2f556c1d96c5ae8c1d3448a577bebfb
https://pubmed.ncbi.nlm.nih.gov/11980846