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المؤلفون: Elaine F. Harkness, Sacha J Howell, Fiona Lalloo, Jamie M Ellingford, Miriam J. Smith, Anthony Howell, D. Gareth Evans, Helene Schlech, William G. Newman, George J Burghel, Claire Forde, Helen Byers, Naomi L. Bowers, Elke M van Veen, Emma R. Woodward, Andrew J Wallace
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, PALB2, Breast Neoplasms, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Odds Ratio, Humans, In patient, Genetic Predisposition to Disease, skin and connective tissue diseases, CHEK2, Triple negative, Genetics (clinical), Ovarian Neoplasms, business.industry, Carcinoma in situ, Odds ratio, medicine.disease, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Ovarian cancer, business, Fanconi Anemia Complementation Group N Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4a309359b3044ffd86032ea1ad2295Test
http://europepmc.org/articles/PMC8486655Test -
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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: 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