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1دورية أكاديمية
المؤلفون: Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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2دورية أكاديمية
المؤلفون: Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C. Black, Susmito Biswas, Jane L. Ashworth, Panagiotis I. Sergouniotis
المصدر: Genes, Vol 14, Iss 4, p 791 (2023)
مصطلحات موضوعية: ectopia lentis, genetic testing, Marfan syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Jamie M Ellingford, Claire Hardcastle, William D Newman, Georgina Hall, Eva Lenassi, Susmito Biswas, Cecilia Fenerty, Graeme C.M. Black, Jane Ashworth, Stuart Ingram, Tracy Fletcher, Panagiotis I. Sergouniotis, I Chris Lloyd, Rachel L. Taylor, Jill Clayton-Smith, Simon C Ramsden, Vinod Kumar Sharma, Sofia Douzgou
المصدر: Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8Test
Genet Med
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, clinical utility, albinism, Eye, Article, Cataract, Eye Abnormalities/genetics, 03 medical and health sciences, Dysgenesis, 0302 clinical medicine, Retinal Diseases, Humans, Medicine, Eye Abnormalities, Genetic Testing, Ectopia lentis, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cataract/diagnosis, Infant, Newborn, Correction, Infant, medicine.disease, inherited eye disease, Bilateral Cataracts, 030104 developmental biology, congenital cataract, inherited retinal disease, Child, Preschool, 030221 ophthalmology & optometry, Albinism, Lens disorder, Medical genetics, Eye disorder, Retinal Diseases/diagnosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06a85355a32cb8ccea2d93935efba0e5Test
https://doi.org/10.1038/s41436-019-0722-8Test -
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المؤلفون: Shalaw R. Sallah, Panagiotis I. Sergouniotis, Claire Hardcastle, Simon Ramsden, Andrew J. Lotery, Nick Lench, Simon C. Lovell, Graeme C.M. Black
المصدر: The Journal of molecular diagnostics : JMD. 24(12)
مصطلحات موضوعية: Virulence, Calcium Channels, L-Type, Night Blindness, Mutation, Molecular Medicine, Humans, Eye Diseases, Hereditary, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579657f0506833b9b9858aea35c92973Test
https://pubmed.ncbi.nlm.nih.gov/36191840Test -
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المؤلفون: Fiona Cunningham, Tracy Fletcher, David R. FitzPatrick, Sarah E. Hunt, Panagiotis I. Sergouniotis, Ana Carvalho, Graeme C.M. Black, Claire Hardcastle, Eva Lenassi, Anja Thormann, Jamie M Ellingford, Simon C Ramsden, Andrew R Webster, Michel Michaelides
مصطلحات موضوعية: Routine testing, business.industry, Medicine, Diagnostic test, Ensembl, Computational biology, Personalized medicine, Prospective cohort study, business, OPHTHALMIC DISORDERS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94eafc6ae8ecbbc1a78ebf42a452c702Test
https://doi.org/10.1101/2021.07.23.21261017Test -
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المؤلفون: Colin Thorbinson, Anthony Penn, Pantelis Nicola, Claire Hardcastle, Sarah Waller, Simon Ramsden, Tim H. H. Coorens, Vivian Tang, Edmund Cheesman, Sofia Douzgou, Stefan Meyer
المصدر: Thorbinson, C, Penn, A, Nicola, P, Hardcastle, C L, Waller, S, Ramsden, S, Coorens, T H H, Tang, V, Cheesman, E, Douzgou, S & Meyer, S 2022, ' Embryonal sarcoma of the liver in a girl with Cockayne Syndrome ', Clinical Genetics .
مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Liver Neoplasms, Genetics, Humans, Female, Sarcoma, Cockayne Syndrome, Genetics (clinical)
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4852b7f0b85023cd066743e96a43aaTest
https://doi.org/10.1111/cge.14094Test -
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المؤلفون: Augusto Rendon, A. Kousathanas, S. E. A. Leigh, D. Kasperaviciute, R. Jackson, J. Pullinger, Richard H. Scott, T. Rahim, Graeme C.M. Black, C. A. Odhams, Simon C Ramsden, A. Siddiq, L. Lahnstein, S. R. Thompson, Huw B. Thomas, Jenny Lord, M. Bleda, M. J. Welland, L. Moutsianas, A. Giess, Jill Clayton-Smith, A. Stuckey, Panagiotis I. Sergouniotis, H. Brittain, K. Sawant, Arianna Tucci, A. Sosinsky, I. U. S. Leong, Nicole Gossan, William G. Newman, Christopher Campbell, Mark J. Caulfield, T. Rogers, Diana Baralle, Andrew G. L. Douglas, A. L. Taylor Tavares, N. Murugaesu, Gavin Arno, S. M. Wood, Louise J. Jones, Robert A. Hirst, Htoo A Wai, A. Hamblin, Glenda M. Beaman, P. O’Donovan, A. Sieghart, F. Maleady-Crowe, S. Henderson, M. Tanguy, Claire Hardcastle, C. R. Boustred, G. C. Chan, M. McEntagart, Beatriz Gomes-Silva, E. Williams, Andrew R. Webster, Ellen R A Thomas, T. Fowler, Christine Patch, Raymond T. O'Keefe, Elizabeth A. Jones, D. Perez-Gil, M. B. Pereira, R. Bevers, F. J. Lopez, Jamie M Ellingford, Kevin Webb, M. Kayikci, S. C. Smith, F. Boardman-Pretty, Charlie Rowlands, K. Witkowsa, P. Arumugam, A. C. Need, Tim Hubbard, J. C. Ambrose, M. Mueller, Christopher O'Callaghan, F. Minneci, K. Savage
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)مصطلحات موضوعية: Prioritization, Genetic testing, Science, RNA Splicing, In silico, Computational biology, Biology, Article, Diagnosis, Differential, Human disease, Databases, Genetic, Diagnosis, RNA Precursors, Genetics, Humans, Disease, Clinical genetics, Medical diagnosis, Uncertain significance, Diagnostic Techniques and Procedures, Multidisciplinary, Disease genetics, Computational Biology, Genetic Variation, Diagnostic test, Exons, Genomics, Pathogenicity, Mutation, RNA splicing, Medicine, RNA Splice Sites, Algorithms
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab35c97f0d97111f801af95b74d199eTest
https://doi.org/10.22541/au.160157595.59675486Test -
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المؤلفون: Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
المصدر: Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5Test
European Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic testing, Adolescent, Disease, 030105 genetics & heredity, Sensitivity and Specificity, Article, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, Internal medicine, Human Phenotype Ontology, medicine, Genetics, Humans, Genetics(clinical), Child, Exome, Genetics (clinical), Aged, medicine.diagnostic_test, Disease genetics, business.industry, Medical genetics, Genetic variants, High-Throughput Nucleotide Sequencing, Infant, Eye Diseases, Hereditary, Retinal, Sequence Analysis, DNA, Syndrome, Middle Aged, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Next-generation sequencing, Female, business, Genetic diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775Test
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxKTest -
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المؤلفون: Charlie Rowlands, Simon C Ramsden, Christopher O'Callaghan, Kevin Webb, Graeme C.M. Black, Robert A. Hirst, Beatriz Gomes-Silva, Andrew R. Webster, Gavin Arno, Jamie M Ellingford, Claire Hardcastle, Huw B. Thomas, William G. Newman, Jill Clayton-Smith, Raymond T. O'Keefe, Christopher J. Campbell, Glenda M. Beaman, Elizabeth A. Jones, Nicole Gossan
مصطلحات موضوعية: 0303 health sciences, education.field_of_study, business.industry, In silico, Alternative splicing, Population, Context (language use), Computational biology, Biology, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, Personalized medicine, business, education, Gene, Allele frequency, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ca12f81dee89eba6fc8f089a338bd4Test
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المؤلفون: Panagiotis I. Sergouniotis, I Chris Lloyd, Claire Hardcastle, Georgina Hall, Susmito Biswas, Rachel L. Taylor, Jane Ashworth, Stuart Ingram, Vinod Kumar Sharma, Eva Lenassi, Tracy Fletcher, Jill Clayton-Smith, William D Newman, Sofia Douzgou, Cecilia Fenerty, Graeme C.M. Black, Simon C Ramsden, Jamie M Ellingford
المصدر: Genetics in Medicine. 23:2023
مصطلحات موضوعية: Text mining, medicine.diagnostic_test, business.industry, medicine, Eye disorder, business, Genetics (clinical), Genetic testing, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48d0e435b5e8ae8846dd1f7d52034bb7Test
https://doi.org/10.1038/s41436-020-01068-8Test