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: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3Test

المؤلفون: D. Gareth Evans, Elke M. van Veen, Emma R. Woodward, Elaine F. Harkness, Jamie M. Ellingford, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith

المصدر: Cancers, Vol 13, Iss 16, p 4154 (2021)

مصطلحات موضوعية: breast cancer, BRCA1, BRCA2, PALB2, ATM, CHEK2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/13/16/4154Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/ac2e30e983064b6895f92f36a899e14aTest

المؤلفون: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83eTest

المؤلفون: Zerin Hyder, Elaine F. Harkness, Emma R. Woodward, Naomi L. Bowers, Marta Pereira, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith, D Gareth Evans

المصدر: Cancers, Vol 12, Iss 2, p 378 (2020)

مصطلحات موضوعية: breast cancer, contralateral, pathogenic variants, early-onset breast cancer, brca1, brca2, tp53, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6694/12/2/378Test; https://doaj.org/toc/2072-6694Test

الوصول الحر: https://doaj.org/article/7a6ca4b16d534f989a8d9acd164da7caTest

المؤلفون: Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rübben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J.M.T. Weppner-Parren, Maurice A.M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9)

المصدر: British Journal of Dermatology, 187(6), 948-961. Wiley

مصطلحات موضوعية: Comparative Genomic Hybridization, Germ Cells, DNA Copy Number Variations, Carcinoma, Basal Cell, Microfilament Proteins, Humans, Follicular Atrophoderma, Medicine [Science], Dermatology, Hypotrichosis, Hair Follicle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce266f5315a5c98055d5aabca2e9efebTest
https://doi.org/10.1111/bjd.21842Test

المؤلفون: Cemsel Bafligil, Deborah J. Thompson, Artitaya Lophatananon, Neil A.J. Ryan, Miriam J. Smith, Joe Dennis, Krisztina Mekli, Tracy A. O’Mara, D. Gareth Evans, Emma J. Crosbie

المصدر: Genetics in Medicine. 24:1847-1856

مصطلحات موضوعية: Multifactorial Inheritance, Risk Factors, Humans, Female, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Risk Assessment, Genetics (clinical), Endometrial Neoplasms, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c229210434b2f6b64f1b82c4f0fcbfcfTest
https://doi.org/10.1016Test/j.gim.2022.05.014

المؤلفون: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

المساهمون: Pediatrics

المصدر: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins

مصطلحات موضوعية: Neurofibromatosis 2, Consensus, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1, Humans, Genetics (clinical), Neurilemmoma

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2Test
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2cTest

المؤلفون: Miriam J Smith, Emma R Woodward, D Gareth Evans

المصدر: Familial Cancer.

مصطلحات موضوعية: Cancer Research, Oncology, Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6854100bcc1c85f2b56f9a22486c2deTest
https://doi.org/10.1007/s10689-023-00330-7Test

المؤلفون: Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith

المصدر: Human Mutation. 43:643-654

مصطلحات موضوعية: Neurofibromin 2, Genes, Neurofibromatosis 2, Mutation, Missense, Genetics, Humans, Genomics, Genetic Association Studies, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36Test
https://doi.org/10.1002/humu.24370Test