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1
المؤلفون: Gorcenco, Sorina, Kafantari, Efthymia, Wallenius, Joel, Karremo, Christin, Alinder, Erik, Dobloug, Sigurd, Landqvist Waldö, Maria, Englund, Elisabet, Ehrencrona, Hans, Wictorin, Klas, Karrman, Kristina, Puschmann, Andreas
المصدر: Journal of Neurology MultiPark: Multidisciplinary research focused on Parkinson´s disease. 271(1):526-542
مصطلحات موضوعية: Hereditary ataxia, Next-generation sequencing, Post-NGS phenotyping, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
الوصول الحر: https://lup.lub.lu.se/record/5f7c34a2-8f70-4bbf-bcd9-493601e2b778Test
http://dx.doi.org/10.1007/s00415-023-11990-xTest -
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المؤلفون: Wallenius, Joel, Kafantari, Efthymia, Jhaveri, Emma, Gorcenco, Sorina, Ameur, Adam, Karremo, Christin, Dobloug, Sigurd, Karrman, Kristina, de Koning, Tom, Ilinca, Andreea, Landqvist Waldö, Maria, Arvidsson, Andreas, Persson, Staffan, Englund, Elisabet, Ehrencrona, Hans, Puschmann, Andreas
المصدر: American Journal of Human Genetics MultiPark: Multidisciplinary research focused on Parkinson´s disease. 111(1):82-95
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
الوصول الحر: https://lup.lub.lu.se/record/5f5837a7-45fc-43f9-ab14-4b8c533cc466Test
http://dx.doi.org/10.1016/j.ajhg.2023.11.008Test -
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المؤلفون: Öfverholm, Anna, Törngren, Therese, Rosén, Anna, Arver, Brita, Einbeigi, Zakaria, Haraldsson, Karin, Ståhlbom, Anne Kinhult, Kuchinskaya, Ekaterina, Lindblom, Annika, Melin, Beatrice, Paulsson-Karlsson, Ylva, Stenmark-Askmalm, Marie, Tham, Emma, von Wachenfeldt, Anna, Kvist, Anders, Borg, Åke, Ehrencrona, Hans
المصدر: BMC Cancer. 23:1-12
مصطلحات موضوعية: Humans, Female, BRCA1 Protein/genetics, BRCA2 Protein/genetics, Genetic Predisposition to Disease, Breast Neoplasms/diagnosis, Genetic Testing, Ovarian Neoplasms/diagnosis, Protein Serine-Threonine Kinases/genetics, Triple Negative Breast Neoplasms/genetics, Hereditary Breast and Ovarian Cancer Syndrome/diagnosis, Germ-Line Mutation, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/045d6748-4497-4c27-adba-b1534346a084Test
http://dx.doi.org/10.1186/s12885-023-11229-yTest -
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المؤلفون: Nacer, Deborah F., Vallon-Christersson, Johan, Nordborg, Nicklas, Ehrencrona, Hans, Kvist, Anders, Borg, Åke, Staaf, Johan
المصدر: Genome Medicine. 15:1-20
مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/9a9b39ae-41fc-4227-addc-c86e92032a7fTest
http://dx.doi.org/10.1186/s13073-023-01177-4Test -
5دورية أكاديمية
المؤلفون: Hakkaart, Christopher, Pearson, John F, Marquart, Louise, Dennis, Joe, Wiggins, George AR, Barnes, Daniel R, Robinson, Bridget A, Mace, Peter D, Aittomäki, Kristiina, Andrulis, Irene L, Arun, Banu K, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Belhadj, Sami, Berger, Lieke, Blok, Marinus J, Boonen, Susanne E, Borde, Julika, Bradbury, Angela R, Brunet, Joan, Buys, Saundra S, Caligo, Maria A, Campbell, Ian, Chung, Wendy K, Claes, Kathleen BM, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J, Daly, Mary B, Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F, Ehrencrona, Hans, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A, Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Hahnen, Eric, Hake, Christopher R, Hamann, Ute, Hansen, Thomas VO, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A, Janavicius, Ramunas, John, Esther M, Joseph, Vijai, Karlan, Beth Y, Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L, Manoukian, Siranoush, Mari, Véronique, Martens, John WM, McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco
المصدر: Communications Biology. 5(1)
مصطلحات موضوعية: Human Genome, Prevention, Breast Cancer, Cancer, Genetics, Aetiology, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Heterozygote, Humans, RNA, Messenger, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jg0h48qTest
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المصدر: European Journal of Human Genetics. 32(1):6-7
مصطلحات موضوعية: Medicin och hälsovetenskap, Hälsovetenskap, Medicinsk etik, Medical and Health Sciences, Health Sciences, Medical Ethics
الوصول الحر: https://lup.lub.lu.se/record/cd0b33a1-c31f-41cd-b867-02f0bb7868f4Test
http://dx.doi.org/10.1038/s41431-023-01428-3Test -
7دورية أكاديمية
المؤلفون: Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J., Castellà, María, Hernández, Gonzalo, EMBRACE, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, kConFab, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Asperen, Christi J., Bodmer, Danielle, Ausems, Margreet GEM, Van Os, Theo A., Blok, Marinus J., Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, HEBON, Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., BCFR, SWE-BRCA, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Johannsson, Oskar Thor, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K., Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K., Imyanitov, Evgeny N., Janavicius, Ramunas, GEMO Study Collaborators, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, De Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Fert Ferrer, Sandra, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M., Antoniou, Antonis C., Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, Pujana, Miguel Angel
مصطلحات موضوعية: Portador de mutacions, Anèmia de Fanconi, Portador de mutació BRCA2, BrCa, Ooforectomia profilàctica, Portador de mutación, Anemia de Fanconi, Portador de mutación BRCA2, Ooforectomía profiláctica, Mutation carrier, Fanconi anemia, BRCA2 mutation carrier, Prophylactic oophorectomy
الوقت: 61
وصف الملف: application/pdf
العلاقة: Breast Cancer Research; 13; Martrat, Griselda; Maxwell, Christopher A.; Tominaga, Emiko [et al.]. Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Research, 2011, 13, R40. Disponible en: . Fecha de acceso: 23 ene. 2024. DOI:10.1186/bcr2862; http://hdl.handle.net/20.500.12328/3947Test; https://dx.doi.org/10.1186/bcr2862Test
الإتاحة: https://doi.org/20.500.12328/3947Test
https://doi.org/10.1186/bcr2862Test
https://hdl.handle.net/20.500.12328/3947Test -
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المؤلفون: Edsjö, Anders, Lindstrand, Anna, Gisselsson Nord, David, Orvelid-Mölling, Paula, Friedman, Mikaela, Cavelier, Lucia, Johansson, Maria, Ehrencrona, Hans, Fagerqvist, Therese, Strid, Tobias, Lovmar, Lovisa, Jacobsson, Bo, Johansson, Åsa, Engstrand, Lars, Wheelock, Craig E., Sikora, Per, Wirta, Valtteri, Fioretos, Thoas, Rosenquist, Richard
المصدر: Cambridge Prisms: Precision Medicine. 1
مصطلحات موضوعية: Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medical and Health Sciences, Health Sciences, Health Care Service and Management, Health Policy and Services and Health Economy
الوصول الحر: https://lup.lub.lu.se/record/e2afc57f-87b8-4980-a50b-4bd72a84b2e2Test
http://dx.doi.org/10.1017/pcm.2023.3Test -
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المؤلفون: Wendt, Camilla, Muranen, Taru A, Mielikäinen, Lotta, Thutkawkorapin, Jessada, Blomqvist, Carl, Jiao, Xiang, Ehrencrona, Hans, Tham, Emma, Arver, Brita, Melin, Beatrice, Kuchinskaya, Ekaterina, Stenmark Askmalm, Marie, Paulsson-Karlsson, Ylva, Einbeigi, Zakaria, von Wachenfeldt Väppling, Anna, Kalso, Eija, Tasmuth, Tiina, Kallioniemi, Anne, Aittomäki, Kristiina, Nevanlinna, Heli, Borg, Åke, Lindblom, Annika
المصدر: Scientific Reports. 11:1-9
مصطلحات موضوعية: Breast Neoplasms/genetics, Case-Control Studies, Checkpoint Kinase 2/genetics, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Multifactorial Inheritance, Sequence Deletion, Exome Sequencing/methods, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/756e85d2-89c6-4498-bc7b-9f89a7da8958Test
http://dx.doi.org/10.1038/s41598-021-93926-xTest -
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المؤلفون: Hawranek, Carolina, 1982, Ehrencrona, Hans, Öfverholm, Anna, Numan Hellquist, Barbro, Rosén, Anna, 1975
المصدر: Trials. 24(1)
مصطلحات موضوعية: Cancer prevention, Genetic testing, Hereditary breast and ovarian cancer, Lynch syndrome, Randomized controlled trial, Risk disclosure
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-218687Test
https://doi.org/10.1186/s13063-023-07829-5Test
https://umu.diva-portal.org/smash/get/diva2:1822761/FULLTEXT01.pdfTest