المؤلفون: Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan G. Preston, Sharelle Joseland, Bernard J. Pope, Ana B.D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung K. Win, John L. Hopper, Mark A. Jenkins, Giovana T. Torrezan, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan, Peter Georgeson

المصدر: Translational Oncology, Vol 52, Iss , Pp 102266- (2025)

مصطلحات موضوعية: Mutational signature, Adenoma, SBS36, SBS30, MUTYH, NTHL1, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1936523324003929; https://doaj.org/toc/1936-5233

URL الوصول: https://doaj.org/article/98af4cff53ff4763aabf68562031e35c

المؤلفون: Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, James McNamara, Morgan almog, Vanessa Fear, Caroline Medi, Mohammad Al-Shinnag, Miriam Fine, Raymond Sy, Keri Finlay, Di Milnes, Dotti Tang, Denisse Garza, Michael Milward, Jessica Taylor, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Belinda Gray, Helen Mountain, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Miranda Vidgen, Georgie Hollingsworth, Chirag Patel, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Matthew Perry, Will Carr, Denise Howting, Andreas Pflaumer, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Mark Ryan, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Julia Dobbins, Julia Mansour, Isabella Sherburn, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Carla Smerdon, David Elliott, Janine Smith

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)

مصطلحات موضوعية: Australian Genomics, Cardiovascular genetic disorders, Genome sequencing, Specialized multidisciplinary care, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009889; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c9654afa9dea4d2db6eb639d8979bf14

المؤلفون: Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, for the Family Cancer Clinics of Australia

المصدر: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Suspected Lynch syndrome, DNA mismatch repair deficiency, Colorectal cancer, Endometrial cancer, Sebaceous skin tumor, Lynch syndrome, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/0b22829c0e7441adb30b2047fa688507

المؤلفون: Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey, Amy Pearn, Cassandra Nichols, Skye McKay, Anne Hayward, Natasha Egoroff, Alexander Engel, Peter Gibbs, Annabel Goodwin, Marion Harris, James G Kench, Nicholas Pachter, Bonny Parkinson, Peter Pockney, Abiramy Ragunathan, Courtney Smyth, Michael Solomon, Daniel Steffens, James Wei Tatt Toh, Marina Wallace, Karen Canfell, Anthony Gill, Finlay Macrae, Kathy Tucker, Natalie Taylor

المصدر: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: Lynch syndrome, Mismatch repair, Tumour testing, Genetics services referral, Bottleneck, Gap, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1897-4287

URL الوصول: https://doaj.org/article/d3a0bc89b5974257b5f271031af8895a

المؤلفون: Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont

المصدر: npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2374-4677

URL الوصول: https://doaj.org/article/e1da7e8351b04cec94eb8ba4ee5e1962

المؤلفون: Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Mar Fan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan

المصدر: Cancers, Vol 15, Iss 4925, p 4925 (2023)

مصطلحات موضوعية: Lynch syndrome, DNA mismatch repair gene variant classification, DNA mismatch repair deficient crypts/glands, colorectal cancer, endometrial cancer, variant of uncertain significance, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/15/20/4925; https://doaj.org/toc/2072-6694; https://doaj.org/article/365fa317084546c48c22bf8661df7f94

الاتاحة: https://doi.org/10.3390/cancers15204925
https://doaj.org/article/365fa317084546c48c22bf8661df7f94

المؤلفون: Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell

المصدر: npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752

المؤلفون: Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/292ffbf513d44bcfa9ab0ee755c6210c

المؤلفون: Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team The Mackenzie’s Mission Study Team

المصدر: Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1781

مصطلحات موضوعية: reproductive genetic carrier screening, implementation science, bioethics, health economics, psychosocial outcomes

وصف الملف: application/pdf

Relation: Omics/Informatics; https://dx.doi.org/10.3390/jpm12111781

الاتاحة: https://doi.org/10.3390/jpm12111781

المؤلفون: April Morrow, Emily Hogden, Yoon-Jung Kang, Julia Steinberg, Karen Canfell, Michael J. Solomon, James G. Kench, Anthony J. Gill, Tim Shaw, Nicholas Pachter, Bonny Parkinson, Luke Wolfenden, Gillian Mitchell, Finlay Macrae, Kathy Tucker, Natalie Taylor

المصدر: Trials, Vol 20, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Lynch syndrome, Hereditary cancer, Implementation, Theoretical domains framework, Behaviour change, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13063-019-3457-6; https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/8102e42f5ac24c69a569a0be9c74833c

المؤلفون: Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, J Andrew Black, Alex Brown, John R Burnett, Christina A Bursill, Alison Colley, Peter M Clifton, Elif I Ekinci, Gemma A Figtree, Brett H Forge, Jacquie Garton-Smith, Dorothy F Graham, Ian Hamilton-Craig, Christian R Hamilton-Craig, Clare Heal, Charlotte M Hespe, Amanda J Hooper, Laurence G Howes, Jodie Ingles, Edward D Janus, Nadarajah Kangaharan, Anthony C Keech, Andrew B Kirke, Leonard Kritharides, Campbell V Kyle, Paul Lacaze, Stephen CH Li, Stjepana Maticevic, Brendan M McQuillan, Sam Mirzaee, Trevor A Mori, Allison C Morton, David M Colquhoun, Joanna C Moullin, Paul J Nestel, Kristen J Nowak, Richard C O'Brien, Nicholas Pachter, Michael M Page, Peter J Psaltis, Jan Radford, Nicola J Reid, Elizabeth N Robertson, Jacqueline DM Ryan, Mitchell N Sarkies, Carl J Schultz, Russell S Scott, Christopher Semsarian, Leon A Simons, Catherine Spinks, Andrew M Tonkin, Frank van Bockxmeer, Kathryn E Waddell-Smith, Natalie C Ward, Harvey D White, Andrew M Wilson, Ingrid Winship, Ann Marie Woodward, Stephen J Nicholls, Peter Brett, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti

المصدر: American Journal of Preventive Cardiology, Vol 6, Iss , Pp 100151- (2021)

مصطلحات موضوعية: Familial hypercholesterolaemia, Guidance, Care, Management, Adults, Children, Diseases of the circulatory (Cardiovascular) system, RC666-701, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666667721000064; https://doaj.org/toc/2666-6677

URL الوصول: https://doaj.org/article/dc3b0f2fd062444885e764503620da67

المؤلفون: Yong Song, Hilda Higgins, Jing Guo, Katrina Harrison, En Nee Schultz, Belinda J. Hales, Eric K. Moses, Jack Goldblatt, Nicholas Pachter, Guicheng Zhang

المصدر: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Diagnostic biomarkers, MicroRNA, Congenital heart defects, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1411-0; https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/3e4238012997449db785136a8c62fdc7

المؤلفون: Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Diagnosis, Genomics, Phenomics, Undiagnosed, Diagnostic odyssey, Clinical best practice, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0619-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b

المؤلفون: Rachel, Delahunty, Linh, Nguyen, Stuart, Craig, Belinda, Creighton, Dinuka, Ariyaratne, Dale W, Garsed, Elizabeth, Christie, Sian, Fereday, Lesley, Andrews, Alexandra, Lewis, Sharne, Limb, Ahwan, Pandey, Joy, Hendley, Nadia, Traficante, Natalia, Carvajal, Amanda B, Spurdle, Bryony, Thompson, Michael T, Parsons, Victoria, Beshay, Mila, Volcheck, Timothy, Semple, Richard, Lupat, Kenneth, Doig, Jiaan, Yu, Xiao Qing, Chen, Anna, Marsh, Christopher, Love, Sanela, Bilic, Maria, Beilin, Cassandra B, Nichols, Christina, Greer, Yeh Chen, Lee, Susan, Gerty, Lynette, Gill, Emma, Newton, Julie, Howard, Rachel, Williams, Christie, Norris, Andrew N, Stephens, Erin, Tutty, Courtney, Smyth, Shona, O'Connell, Thomas, Jobling, Colin J R, Stewart, Adeline, Tan, Stephen B, Fox, Nicholas, Pachter, Jason, Li, Jason, Ellul, Gisela, Mir Arnau, Mary-Anne, Young, Louisa, Gordon, Laura, Forrest, Marion, Harris, Karen, Livingstone, Jane, Hill, Georgia, Chenevix-Trench, Paul A, Cohen, Penelope M, Webb, Michael, Friedlander, Paul, James, David, Bowtell, Kathryn, Alsop

المصدر: Journal of Clinical Oncology. 40:2036-2047

مصطلحات موضوعية: Male, Ovarian Neoplasms, Cancer Research, Australia, Breast Neoplasms, Pilot Projects, Carcinoma, Ovarian Epithelial, Oncology, Humans, Family, Female, Genetic Predisposition to Disease, Genetic Testing, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d66ca017250ec5b60c0dd8770470563
https://doi.org/10.1200/jco.21.02108

المؤلفون: Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles

المساهمون: Cardiovascular Centre (CVC), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, AII - Cancer immunology, Amsterdam Reproduction & Development (AR&D), Radiology and Nuclear Medicine, ACS - Pulmonary hypertension & thrombosis, ACS - Atherosclerosis & ischemic syndromes, Cardiology, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Clinical Genetics

المصدر: Circulation. Genomic and Precision Medicine, 16, 1
Circulation: Genomic and Precision Medicine, 16(1):E003672. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Genomic and precision medicine, 16(1). Lippincott Williams and Wilkins Ltd.
Circulation: Genomic and Precision Medicine, 16(1), 69-79. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and Precision Medicine, 16
Circulation: Genomic and Precision Medicine, 16(1). Lippincott Williams & Wilkins

مصطلحات موضوعية: cardiomyopathies, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], sudden cardiac, death, death, sudden cardiac, primary, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], General Medicine, desmoplakins, genetic testing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168e6f2d791aa1fd96556c202c710360

المؤلفون: Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles

المصدر: Circulation. Genomic and precision medicine.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7142023d0a2271d92d9519c93025ddd3
https://pubmed.ncbi.nlm.nih.gov/36580316

المؤلفون: Melissa Monnik, Finlay A. Macrae, Rajneesh Kaur, Nicholas Pachter, Cassandra B. Nichols, Amanda B. Spurdle, Rachel Austin, Bettina Meiser, Paul A. James, Elisa J. Cops, Natalie Taylor, Lucinda Salmon

المصدر: J Community Genet

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, Public health, Public Health, Environmental and Occupational Health, Stakeholder, humanities, Resource (project management), General partnership, Family medicine, medicine, Original Article, Thematic analysis, Psychology, Genetics (clinical), Custodians, Qualitative research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8530bc9faa770cec2a96e8327de74f2
https://doi.org/10.1007/s12687-021-00559-8

المؤلفون: Chloe Ayres, Lyn Schofield, Adeline Tan, Cassandra B. Nichols, Surabhi Gupta, Colin J.R. Stewart, Stuart G. Salfinger, Paul A. Cohen, Nicholas Pachter, Cathy Kiraly-Borri, Sarah O'Sullivan, Ganendra R. Mohan, Jessica Phillips, Yee Leung

المصدر: International Journal of Gynecologic Cancer. 31:846-851

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Endometrial Carcinomas, Gynecologic oncology, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Family history, Early Detection of Cancer, Aged, 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, Western Australia, Mismatch Repair Protein, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Immunohistochemistry, Lynch syndrome, Endometrial Neoplasms, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Lynch Syndrome II, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4841c5b480c351f6cc7362429107cf7
https://doi.org/10.1136/ijgc-2020-002299

المؤلفون: Yoland Antill, Paul A. James, Judy Kirk, Uwe Dressel, Nicola K. Poplawski, Lucinda Salmon, Nicholas Pachter, Aimee L Davidson, Sharron Townshend, Michael Gattas, Emma Tudini, Gillian Mitchell, Helen Mar Fan, Rachel Susman, Katherine M. Tucker, Robyn L. Ward, Michael Field, Ashley Crook, Alison H. Trainer, Amanda B. Spurdle, Lesley Andrews, Rebecca Harris

المصدر: Journal of Medical Genetics. 58:853-858

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic counseling, Genetic Counseling, Context (language use), Medical Oncology, 03 medical and health sciences, Strength of evidence, 0302 clinical medicine, Neoplasms, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Family Health, Genetics & Heredity, medicine.diagnostic_test, business.industry, Tumor Suppressor Proteins, Australia, Cancer, Molecular Sequence Annotation, medicine.disease, Penetrance, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Family medicine, 06 Biological Sciences, 11 Medical and Health Sciences, Female, Hereditary Cancer, business

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f932aebd24622453356be80b23b9444
https://doi.org/10.1136/jmedgenet-2020-107140

المؤلفون: Michelle E. Abadingo, Marta Ascurra, Michelle Bishop, Kathleen Calzone, Eva Maria C. Cutiongco-de la Paz, Vajira H.W. Dissanayake, Ghada El-Kamah, Karen Fieggen, Clara L. Gaff, Desalyn L. Johnson, Bruce R. Korf, Dhavendra Kumar, Beatriz de la Fuente, Elly Lynch, Ebner Bon G. Maceda, Saqib Mahmood, Melissa Martyn, A. Middleton, Ximena Montenegro-Garreaud, Angelica Moresco, Helen Mountain, Amy Nisselle, Nicholas Pachter, Carmencita D. Padilla, Ratna Dua Puri, Victor Raggio, Simon Ramsden, J. Roberts, Augusto Rojas-Martinez, Anneke Seller, Alison Taylor-Beadling, Nilam Thakur, Emma Tonkin, Rosa Pardo Vargas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c040306723a03b81c7d83c153c01087e
https://doi.org/10.1016/b978-0-323-98383-9.09991-4