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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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المصدر: Journal of Cataract and Refractive Surgery. 33:1464-1468
مصطلحات موضوعية: medicine.medical_specialty, National Health Programs, medicine.medical_treatment, MEDLINE, Cataract Extraction, Consent Forms, Government Agencies, Informed consent, medicine, Humans, Prospective Studies, General hospital, Royal infirmary, Health policy, business.industry, Health Policy, Consent to treatment, Cataract surgery, United Kingdom, humanities, Sensory Systems, Surgery, Ophthalmology, Family medicine, Practice Guidelines as Topic, Guideline Adherence, business
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المؤلفون: Laura Downes, Meyyammai Mohan, Kate Chandler, Shyamala Ariyaratnam, Christian de Goede, Martin Lowe, Nasaim Khan, Siddharth Banka, Guanhua Yan, Wyatt W. Yue
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 20(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual disability, medicine, Missense mutation, Humans, Global developmental delay, Exome, MORM syndrome, Genetics, Oncogene Proteins, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Hypotonia, Phosphoric Monoester Hydrolases, Pedigree, Developmental disorder, Phenotype, rab GTP-Binding Proteins, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, Neurology (clinical), medicine.symptom
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المؤلفون: Bertie Fernando, Paul S. Cannon, Meyyammai Mohan
المصدر: Acta ophthalmologica. 87(3)
مصطلحات موضوعية: Ophthalmology, Appointments and Schedules, Optics, Ambulatory Surgical Procedures, National Health Programs, business.industry, Optometry, Medicine, Humans, General Medicine, Ophthalmologic Surgical Procedures, business, United Kingdom
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المؤلفون: Meyyammai Mohan, Rajan Bhojwani, Petula Bhojwani, Bertie Fernando
المصدر: Journal of Cataract and Refractive Surgery. 34:1228-1229
مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, business.industry, medicine.medical_treatment, General surgery, Perspective (graphical), medicine, Surgery, Cataract surgery, business, Sensory Systems
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المؤلفون: Meyyammai Mohan, Rajan Bhojwani, Bertie Fernando
المصدر: Journal of Cataract and Refractive Surgery. 34:181
مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, business.industry, medicine.medical_treatment, Medicine, Surgery, Cataract surgery, business, Sensory Systems
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المؤلفون: Nicoletta Zoppi, Sarah B. Daly, Leo A. H. Zeef, Meyyammai Mohan, Leon Au, Meredith Wilson, Naz Khan, Annabel Dodds, Forbes D C Manson, Ioannis Tosounidis, Siddharth Banka, Jill Clayton-Smith, Marina Colombi, Graeme C.M. Black, Colm Madden, Helen L Spencer, Jill E. Urquhart, Emma Burkitt Wright, Leslie G. Biesecker, Richard Bonshek, Cecilia Giunta, Marianne Rohrbach, Kate Chandler
المساهمون: University of Zurich, University of Groningen
المصدر: Europe PubMed Central
American Journal of Human Genetics, 88(6), 767-777. CELL PRESSمصطلحات موضوعية: 0106 biological sciences, Male, Connective Tissue Disorder, genetic structures, DNA Mutational Analysis, Bioinformatics, medicine.disease_cause, 01 natural sciences, Extracellular matrix, 0302 clinical medicine, Cornea, Genetics(clinical), PRDM5, Eye Abnormalities, Child, Genetics (clinical), Genetics, Zinc finger, 0303 health sciences, Mutation, brittle cornea syndrome, ABNORMALITIES, KYPHOSCOLIOTIC TYPE, exytacellular matrix, collagens, Extracellular Matrix, Pedigree, FAMILY, 3. Good health, DNA-Binding Proteins, medicine.anatomical_structure, CROSS-LINKS, Female, connective tissue disorders, rare disorders, Erratum, Joint Instability, FIBROBLASTS, Keratoconus, 2716 Genetics (clinical), 610 Medicine & health, Quantitative trait locus, Biology, Article, 03 medical and health sciences, 1311 Genetics, THICKNESS, medicine, Humans, 030304 developmental biology, SYNDROME TYPE-VI, medicine.disease, GENE, COLLAGEN, eye diseases, Ehlers–Danlos syndrome, 10036 Medical Clinic, Skin Abnormalities, 030221 ophthalmology & optometry, Ehlers-Danlos Syndrome, sense organs, INTEGRIN, 010606 plant biology & botany, Transcription Factors
وصف الملف: Mutations_in_PRDM5_in_Brittle_Cornea_Syndrome.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e3c2b1d42d8b61ed72e48993cb1b4d3
http://europepmc.org/abstract/PMC/PMC3155162