المؤلفون: Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sonia Melo Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J Lachmann, Philip N Hawkins, Nigel Klein, Paul A Brogan

المصدر: PLoS ONE, Vol 12, Iss 7, p e0181874 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5531484?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/af04bb63bbd945f089230fb731d184d5Test

المؤلفون: Miranda Durkie, Christopher M. Watson, Peter Winship, Anne-Cecile Hogg, Rodney Nyanhete, Sharon Cooley, Manoj K. Valluru, Charles Shaw-Smith, Coralie Bingham, Mark Gilchrist, Janna Kenny, Genomics England Research Consortium, Albert C. M. Ong

العلاقة: https://doi.org/10.1155/2023/5597005Test

الإتاحة: https://doi.org/10.1155/2023/5597005Test

المؤلفون: Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull

المساهمون: Huntley, Catherine [0000-0002-3797-7398], Torr, Bethany [0000-0003-3487-9749], Garrett, Alice [0000-0001-8942-283X], Burghel, George J [0000-0001-9360-8194], Eccles, Diana M [0000-0002-9935-3169], Pharoah, Paul [0000-0001-8494-732X], Antoniou, Antonis C [0000-0001-9223-3116], Evans, D Gareth [0000-0002-8482-5784], Apollo - University of Cambridge Repository

المصدر: Journal of medical genetics.

مصطلحات موضوعية: Genetics, Population, Genetics, Medical, Neoplasms, Databases, Genetic, Genetics, Humans, Genetic Testing, Genomics, Laboratories, DNA Mismatch Repair, Genetics (clinical), State Medicine

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62372700ac955205ef10a1d137ef5072Test
https://pubmed.ncbi.nlm.nih.gov/36572524Test

المؤلفون: Tommaso B. Jannini, Vijay Tailor, Ken K. Nischal, Rodney Nyanhete, Lily Islam, Helena Ahlfors, Maria Bitner-Glindzicz, Mario Zanolli, John Brookes, Camila Gabriel, Thomas Cullup, Mariya Moosajee, Lucy Jenkins, Peng T. Khaw, Robert H. Henderson, Aara Patel, Jane Hayward, Annegret Dahlmann-Noor, Maria Papadopoulos, Leonardo E Valdivia, Jane A. Hurst, Yassir Abbou-Rayyah, Jane C. Sowden

المصدر: Ophthalmology. 126:888-907

مصطلحات موضوعية: Sanger sequencing, 0303 health sciences, Coloboma, business.industry, Eye disease, Glaucoma, medicine.disease, Bioinformatics, Microphthalmia, eye diseases, 03 medical and health sciences, Ophthalmology, symbols.namesake, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, Congenital cataracts, symbols, Eye disorder, Copy-number variation, business, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c9daa2bded40b3fbda0cba928be46f0Test
https://doi.org/10.1016/j.ophtha.2018.12.050Test

المؤلفون: Aara, Patel, Jane D, Hayward, Vijay, Tailor, Rodney, Nyanhete, Helena, Ahlfors, Camila, Gabriel, Tommaso B, Jannini, Yassir, Abbou-Rayyah, Robert, Henderson, Ken K, Nischal, Lily, Islam, Maria, Bitner-Glindzicz, Jane, Hurst, Leonardo E, Valdivia, Mario, Zanolli, Mariya, Moosajee, John, Brookes, Maria, Papadopoulos, Peng T, Khaw, Thomas, Cullup, Lucy, Jenkins, Annegret, Dahlmann-Noor, Jane C, Sowden

المصدر: Ophthalmology. 126(6)

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Proteome, Genome, Human, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Pedigree, Molecular Diagnostic Techniques, Child, Preschool, Mutation, Humans, Female, Eye Abnormalities, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5aa5320d005a89fa334d7abde19909f7Test
https://pubmed.ncbi.nlm.nih.gov/32200847Test

المؤلفون: Ebun Omoyinmi, Stefan Berg, Cheryl Hemingway, Evangeline Wassmer, Charalampia Papadopoulou, Ciara Mulhern, Rodney Nyanhete, Thomas Cullup, Marina Casimir, Ming K. Lim, Helena Ahlfors, Ying Hong, Kshitij Mankad, Yael Hacohen, Kimberly Gilmour, Despina Eleftheriou, Dara McCreary, Paul A. Brogan

المصدر: JAMA Network Open

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Adolescent, Genotype, medicine.medical_treatment, Hematopoietic stem cell transplantation, Sensitivity and Specificity, Young Adult, Internal medicine, London, medicine, Humans, Copy-number variation, Family history, Allele, Child, Original Investigation, Inflammation, Brain Diseases, Genetic heterogeneity, business.industry, Research, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Online Only, Phenotype, Molecular Diagnostic Techniques, Neurology, Child, Preschool, Mutation, Cohort, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::197d1ab8e27e991a81d8c85485cea1e2Test
https://doi.org/10.1001/jamanetworkopen.2019.14274Test