نتائج البحث - "Wynn, Sarah L"

1

دورية أكاديمية

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol

المؤلفون: Low, Karen Jaqueline, Watford, Amy, Blair, Peter, Nabney, Ian, Powell, John, Wynn, Sarah L, Foreman, Julia, Firth, Helen, Ingram, Jenny

المساهمون: Health Services Research Programme, Wellcome Trust

المصدر: BMJ Open ; volume 14, issue 5, page e085237 ; ISSN 2044-6055 2044-6055

الإتاحة: https://doi.org/10.1136/bmjopen-2024-085237Test

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2

دورية أكاديمية

“Something that helped the whole picture”: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

مصطلحات موضوعية: Medicine and health

وصف الملف: application/pdf

العلاقة: https://repository.uwl.ac.uk/id/eprint/11252/1/EXPRESS%20Parents%20paper%20-%20revised%20011223%20-%20Accepted%20version.pdfTest; McInnes-Dean, Hannah, Mellis, Rhiannon, Daniel, Morgan, Walton, Holly, Baple, Emma L, Bertoli, Marta, Fisher, Jane, Gajewska-Knapik, Katarzyna, Holder-Espinasse, Muriel, Lafarge, Caroline orcid:0000-0003-2148-078X , Leeson-Beevers, Kerry, McEwan, Alec, Pandya, Pranav, Parker, Michael, Peet, Sophie, Roberts, Lauren, Sankaran, Srividhya, Smith, Audrey, Tapon, Dagmar, Wu, Wing Han, Wynn, Sarah L, Chitty, Lyn S, Hill, Melissa and Peter, Michelle (2024) “Something that helped the whole picture”: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenatal Diagnosis. ISSN 0197-3851

الإتاحة: https://repository.uwl.ac.uk/id/eprint/11252Test/
https://repository.uwl.ac.uk/id/eprint/11252/1/EXPRESS%20Parents%20paper%20-%20revised%20011223%20-%20Accepted%20version.pdfTest

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3

دورية أكاديمية

Genomics in Rare Diseases: An Overview for the Patient, Family and Non-Specialist Healthcare Professional

المؤلفون: Kent, Alastair, Parker, Alasdair PJ, Patel, Arti, Wynn, Sarah L, Steward, Charles A

المصدر: Future Rare Diseases ; volume 3, issue 4 ; ISSN 2399-5270

الإتاحة: https://doi.org/10.2217/frd-2023-0019Test

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4

دورية أكاديمية

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.

المصدر: nlmid: 9918333281906676 ; essn: 2633-4402

مصطلحات موضوعية: counselling, ethics, genomic medicine service, mixed methods, prenatal exome sequencing, study protocol

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/340861Test

الإتاحة: https://doi.org/10.17863/CAM.88296Test
https://www.repository.cam.ac.uk/handle/1810/340861Test

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5

دورية أكاديمية

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol

المؤلفون: Lewis, Celine, Buchanan, James, Clarke, Angus, Clement, Emma, Friedrich, Bettina, Hastings-Ward, Jillian, Hill, Melissa, Horn, Ruth, Lucassen, Anneke M., Patch, Chris, Pickard, Alexandra, Roberts, Lauren, Sanderson, Saskia C., Wynn, Sarah L., Vindrola-Padros, Cecilia, Lakhanpaul, Monica

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/93066Test; urn:nbn:de:bvb:384-opus4-930660; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-930660Test; https://doi.org/10.3310/nihropenres.13236.1Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/93066/Horn%202021%20-%20Mixed%20Methods.pdfTest

الإتاحة: https://doi.org/10.3310/nihropenres.13236.1Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/93066Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-930660Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/93066/Horn%202021%20-%20Mixed%20Methods.pdfTest

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6

دورية أكاديمية

Transformation of resident notochord‐descendent nucleus pulposus cells in mouse injury‐induced fibrotic intervertebral discs

المؤلفون: Au, Tiffany Y. K., Lam, To‐Kam, Peng, Yan, Wynn, Sarah L., Cheung, Kenneth M. C., Cheah, Kathryn S. E., Leung, Victor Y. L.

المساهمون: National Natural Science Foundation of China

المصدر: Aging Cell ; volume 19, issue 11 ; ISSN 1474-9718 1474-9726

الإتاحة: https://doi.org/10.1111/acel.13254Test

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7

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]

المساهمون: Hill, Melissa [0000-0003-3900-1425], Knight, Marian [0000-0002-1984-4575], Mellis, Rhiannon [0000-0001-9905-0654], Parker, Michael [0000-0002-7054-4711], Blackburn, Laura [0000-0003-4258-9370], Lafarge, Caroline [0000-0003-2148-078X], Peter, Michelle [0000-0002-4977-8708], Ramakrishnan, Rema [0000-0002-6784-8319], Walton, Holly [0000-0002-8746-059X], Wynn, Sarah L [0000-0003-3837-4764], Apollo - University of Cambridge Repository

المصدر: NIHR open research. 2

مصطلحات موضوعية: counselling, mixed methods, genomic medicine service, ethics, prenatal exome sequencing, study protocol

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7d7262a7371a8f35319de9c66aa5d5Test
https://pubmed.ncbi.nlm.nih.gov/35935673Test