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1دورية أكاديمية
المؤلفون: Charlie F Rowlands, Diana Baralle, Jamie M Ellingford
المصدر: Cells; Volume 8; Issue 12; Pages: 1513
مصطلحات موضوعية: Mendelian disease, diagnostics, variant interpretation, variant prioritization, RNA splicing, bioinformatics, machine learning, genomic medicine, effect prediction
وصف الملف: application/pdf
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المؤلفون: Jamie M Ellingford, Huw B. Thomas, Raymond T. O'Keefe, Glenda M. Beaman, Sofia Douzgou, William G. Newman, Katrina Prescott, Katherine A. Wood, Emma Hobson
المصدر: Newman, W, Wood, K, O'Keefe, R, Ellingford, J, Thomas, H, Douzgou, S, Beaman, G, Hobson, E & Prescott, K 2022, ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ', Clinical Genetics, vol. 101, no. 2, pp. 255-259 . https://doi.org/10.1111/cge.14082Test
مصطلحات موضوعية: Heart Defects, Congenital, Spliceosome, Genotype, RNA Splicing, Biology, Deafness, Choanal Atresia, Exon, splicing, Rare Disease, Genetics, Humans, Genetic Predisposition to Disease, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Alleles, Genetic Association Studies, Ribonucleoprotein, U5 Small Nuclear, Binding Sites, burn mckeown syndrome, TNXL4A, Facies, Promoter, Pedigree, DNA binding site, Phenotype, RNA splicing, Mutation, Female, Trans-acting, Minigene, Protein Binding, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21d6a68dc4a89c7713b820bc8c4feeTest
https://pubmed.ncbi.nlm.nih.gov/34713892Test -
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المؤلفون: Nicola Whiffin, William G. Newman, Jamie M Ellingford, Gillian I. Rice, Charlie Rowlands, H N Hall, Douglas Agl., Black Gcm., Tracy A Briggs, Algy Taylor, Raymond T. O'Keefe, Simon J. Hubbard, Diana Baralle
مصطلحات موضوعية: symbols.namesake, RNA splicing, Metric (mathematics), Gene expression, Mendelian inheritance, symbols, RNA-Seq, Context (language use), Computational biology, Biology, Gene, Deep sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02c16066800d24873124b07be26aeac9Test
https://doi.org/10.1101/2021.03.19.21253973Test -
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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: Diana Baralle, Jamie M Ellingford, Charles F Rowlands
المصدر: Cells
مصطلحات موضوعية: 0301 basic medicine, Prioritization, RNA splicing, Computer science, In silico, Genomics, Context (language use), Review, Mendelian disease, Machine learning, computer.software_genre, Models, Biological, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, diagnostics, RNA Precursors, Humans, Genetic Predisposition to Disease, splice, genetics, variant prioritization, effect prediction, business.industry, variant interpretation, Computational Biology, Genetic Variation, Molecular Sequence Annotation, General Medicine, bioinformatics, 030104 developmental biology, genomic medicine, Spike (software development), Artificial intelligence, business, computer, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576ffdcc34bc901bff5ee496f482d4cdTest
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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: Kevin Webb, William G. Newman, Glenda M. Beaman, Christopher O'Callaghan, Graeme C.M. Black, Jamie M Ellingford, Robert A. Hirst
مصطلحات موضوعية: Disease gene, Whole genome sequencing, 0303 health sciences, Genomics, Computational biology, Biology, medicine.disease, Genome, Cystic fibrosis, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, RNA splicing, medicine, 030304 developmental biology, Primary ciliary dyskinesia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b85d75274ee24c15c8fd8831814f1879Test