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المؤلفون: Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
المساهمون: Investigators, The 100,000 Genomes Project Pilot
المصدر: Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790Test
مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Adolescent, Pilot Projects, Genomics, Polymerase Chain Reaction, Genome, State Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Health care, Human Phenotype Ontology, Humans, Medicine, Child, Exome sequencing, 030304 developmental biology, Family Characteristics, 0303 health sciences, Whole Genome Sequencing, Genome, Human, business.industry, Genetic Variation, Rare Diseases/diagnosis, General Medicine, Middle Aged, United Kingdom, 3. Good health, Child, Preschool, Family medicine, Medical genetics, Female, business, Bristol, 030217 neurology & neurosurgery, Rare disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769Test
https://doi.org/10.1056/nejmoa2035790Test -
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المؤلفون: Judith Hayward, Val Davison, Imran Rafi, Michelle Bishop
المصدر: British Journal of General Practice. 67:58-59
مصطلحات موضوعية: Genomics, Disease, Gene mutation, Bioinformatics, Genome, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Breast cancer, Neoplasms, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Primary Health Care, business.industry, Editorials, Cancer, Genomic signature, Precision medicine, medicine.disease, United Kingdom, 030220 oncology & carcinogenesis, Family Practice, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8574d134e18cac1f674b3fe7d7b3f04dTest
https://doi.org/10.3399/bjgp17x688945Test -
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المؤلفون: Kim Smith, Samantha J. L. Knight, Edward Blair, Eddy Maher, Jenny C. Taylor, Regina Regan, Sara Dyer, James M. Buchanan, Carolyn Campbell, Sarah Wordsworth, Val Davison
المصدر: Genomic Medicine
مصطلحات موضوعية: medicine.medical_specialty, Cost effectiveness, Microarrays, MEDLINE, Comparative genomic hybridisation, Context (language use), Bioinformatics, 03 medical and health sciences, medicine, Genetics, Genetics(clinical), Medical diagnosis, Intensive care medicine, Genetics (clinical), Average cost, health care economics and organizations, Learning disability, 030304 developmental biology, Cost database, 0303 health sciences, business.industry, 030305 genetics & heredity, Cost-effectiveness analysis, 3. Good health, Cost-effectiveness, medicine.symptom, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425e9433fadb5dc02a422fc0d3adbe65Test
http://europepmc.org/articles/PMC2276893Test -
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المؤلفون: A. Griffiths, Trevor Cole, A. Ng, S. E. Parkes, Val Davison, Richard Grundy, M. Griffiths, Jillian R. Mann, S. Larkin
المصدر: European journal of cancer (Oxford, England : 1990). 43(9)
مصطلحات موضوعية: Adult, Male, Cancer Research, Pediatrics, medicine.medical_specialty, Adolescent, Consanguinity, Wilms Tumor, Congenital Abnormalities, Cohort Studies, Marshall–Smith syndrome, medicine, Humans, Medical history, Sibling, Child, business.industry, Incidence (epidemiology), Cancer, Infant, Wilms' tumor, medicine.disease, Kidney Neoplasms, Pedigree, Oncology, Genetic Techniques, Child, Preschool, Cohort, Female, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e3e95fdae20ec04dfd1e9ec17a91cdTest
https://pubmed.ncbi.nlm.nih.gov/17499987Test -
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المؤلفون: David W. Ellison, E. Prebble, Val Davison, Richard Grundy, Sara Dyer
المصدر: European Journal of Cancer. 37:S337
مصطلحات موضوعية: Cancer Research, Pediatrics, medicine.medical_specialty, Oncology, business.industry, medicine, Cancer, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c26c5714903f69f926e56e7e78292422Test
https://doi.org/10.1016/s0959-8049Test(01)81741-x -
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المؤلفون: Sarah Bullock, Samira Iskander-Gabra, Clive Felix, Val Davison
المصدر: Biochemical Society Transactions. 24:273S-273S
مصطلحات موضوعية: Male, Genetics, X Chromosome, Genetic Linkage, Mosaicism, business.industry, Genetic Carrier Screening, Exons, Biochemistry, Muscular Dystrophies, Pedigree, Dystrophin, Germinal mosaicism, Humans, Medicine, Female, Lymphocytes, business, Cells, Cultured, Gene Deletion, In Situ Hybridization, Fluorescence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e3f58472f44f55b55f07ad42d7f740fTest
https://doi.org/10.1042/bst024273sTest