المؤلفون: D. Gareth Evans, Emma R. Woodward, George J. Burghel, Sophie Allen, Beth Torr, Monica Hamill, Grace Kavanaugh, Mike Hubank, Stephen Bremner, Christopher I. Jones, Helene Schlecht, Susan Astley, Sarah Bowers, Sarah Gibbons, Helen Ruane, Caroline Fosbury, Sacha J. Howell, Claire Forde, Fiona Lalloo, William G. Newman, Miriam J. Smith, Anthony Howell, Clare Turnbull, Ashu Gandhi

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100849- (2024)

مصطلحات موضوعية: BRCA1, BRCA2, Breast cancer, Manchester score, PALB2 population testing, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008580Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/3e798b711ae8405f937d2e6d36c02588Test

المؤلفون: Babur Ahmed, Simon Shaw, Oliver Pratt, Claire Forde, Simon Lal, Gordon Carlson CBE

المصدر: Clinical Nutrition ESPEN.

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8c461704c3db6432dbf82a0561731bc9Test
https://doi.org/10.1016/j.clnesp.2023.05.012Test

المؤلفون: D Gareth Evans, George J Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward

المصدر: Evans, D G, Burghel, G J, Schlecht, H, Harkness, E F, Gandhi, A, Howell, S J, Howell, A, Forde, C, Lalloo, F, Newman, W G, Smith, M J & Woodward, E R 2023, ' Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109196Test

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e860400de5ccb1fe9afaacddc39578Test
https://research.manchester.ac.uk/en/publications/f25b9fb4-cc44-4af4-a68c-3c17a503ffd0Test

المؤلفون: Maria Patricia, Barrett, Kirstine, Farrer, Claire, Forde, Liat, Deutsch, Simon, Lal

المصدر: Journal of Human Nutrition and Dietetics. 35:895-900

مصطلحات موضوعية: Adult, Nutrition and Dietetics, Humans, Medicine (miscellaneous), Pilot Projects, Ascorbic Acid, Prospective Studies, Vitamins, Parenteral Nutrition, Home

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dc1ea4c929b3894ec487e143b3f6330Test
https://doi.org/10.1111/jhn.12997Test

المؤلفون: D Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George J Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward

المصدر: Evans, D G, Sithambaram, S, van Veen, E M, Burghel, G J, Schlecht, H, Harkness, E, Byers, H J, Ellingford, J, Gandhi, A, Howell, S J, Howell, T, Forde, C, Lalloo, F, Newman, W, Smith, M J & Woodward, E 2022, ' Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108790Test

مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Genetics, Genetics (clinical)

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115b11b250e0606d60e9ac5e69e7b595Test
https://research.manchester.ac.uk/en/publications/c94290d8-af40-4cdf-aef9-8aa182ee5e54Test

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

المؤلفون: Eamonn R. Maher, Julian Adlard, Julian Barwell, Angela F. Brady, Paul Brennan, Jackie Cook, Gillian S. Crawford, Tabib Dabir, Rosemarie Davidson, Rebecca Dyer, Rachel Harrison, Claire Forde, Dorothy Halliday, Helen Hanson, Eleanor Hay, Jenny Higgs, Mari Jones, Fiona Lalloo, Zosia Miedzybrodzka, Kai Ren Ong, Frauke Pelz, Deborah Ruddy, Katie Snape, James Whitworth, Richard N. Sandford

المساهمون: Maher, Eamonn R [0000-0002-6226-6918], Lalloo, Fiona [0000-0002-0612-8377], Apollo - University of Cambridge Repository, Maher, Eamonn [0000-0002-6226-6918]

مصطلحات موضوعية: Male, Cancer Research, von Hippel-Lindau Disease, Oncology, Genotype, Von Hippel-Lindau Tumor Suppressor Protein, Neoplasms, Humans, Female, urologic and male genital diseases, State Medicine, United Kingdom

وصف الملف: application/zip; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06295e83d0a66ef4ce1ca1c5157b288bTest
https://www.repository.cam.ac.uk/handle/1810/336508Test

المؤلفون: Marta Pereira, Fiona Lalloo, D. Gareth Evans, Claire Forde, Naomi L. Bowers, Emma R. Woodward, Andrew J Wallace, Kate Brunstrom, Elaine F. Harkness

المصدر: Journal of Medical Genetics. 58:74-78

مصطلحات موضوعية: 0301 basic medicine, medicine.diagnostic_test, business.industry, Offspring, Cancer, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, North west, 030220 oncology & carcinogenesis, Genetics, medicine, business, Genetics (clinical), Genetic testing, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::971f1cc4a5dafe44430403de64855f38Test
https://doi.org/10.1136/jmedgenet-2019-106544Test

المؤلفون: Leslie P Molina-Ramírez, Sofia Douzgou, Kay Metcalfe, Kate Chandler, Claire Kyle, John H McDermott, Tracy A Briggs, Haroon Saeed, D A Gokhale, Jill Clayton-Smith, Ronnie Wright, Claire Forde, Emma Burkitt-Wright, Audrey Smith, Siddharth Banka, Graeme C.M. Black, Algy Taylor, Iain A. Bruce, Sanjeev S. Bhaskar, Laura Dutton, Christopher Campbell, William G. Newman

المصدر: Molina-Ramírez, L P, Burkitt-Wright, E M, Saeed, H, McDermott, J H, Kyle, C, Wright, R, Campbell, C, Bhaskar, S S, Taylor, A, Dutton, L, Forde, C, Metcalfe, K, Smith, A, Clayton-Smith, J, Douzgou, S, Chandler, K, Briggs, T A, Banka, S, Newman, W G, Gokhale, D, Bruce, I A & Black, G C 2021, ' The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders : A single-institution experience ', Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, vol. 46, no. 6, pp. 1257-1262 . https://doi.org/10.1111/coa.13826Test

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, precision medicine, Genomics, Young Adult, Surveys and Questionnaires, Exome Sequencing, medicine, genomics, Humans, Single institution, Child, Hearing Loss, Exome sequencing, Aged, Retrospective Studies, hearing loss, business.industry, Infant, Middle Aged, Precision medicine, Phenotype, Otorhinolaryngology, Child, Preschool, Mutation, Female, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0144cec164424f974b59aa2bf8ba5463Test
https://doi.org/10.1111/coa.13826Test

المؤلفون: Claire Forde, Emma Burkitt-Wright, Peter D. Turnpenny, Eric Haan, John Ealing, Sahar Mansour, Muriel Holder, Nayana Lahiri, Abhijit Dixit, Annie Procter, Laurence Pacot, Dominique Vidaud, Yline Capri, Marion Gerard, Hélène Dollfus, Elise Schaefer, Chloé Quelin, Sabine Sigaudy, Tiffany Busa, Gabriella Vera, Lena Damaj, Ludwine Messiaen, David A. Stevenson, Peter Davies, Sheila Palmer-Smith, Alison Callaway, Pierre Wolkenstein, Eric Pasmant, Meena Upadhyaya

المصدر: European journal of human genetics : EJHG. 30(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurofibroma, Neurofibromatosis 1, Cafe-au-Lait Spots, Genetics, Humans, Longitudinal Studies, Genetics (clinical), Genetic Association Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b550528e5e38bea66da11ccd388727Test
https://pubmed.ncbi.nlm.nih.gov/34897289Test