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

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

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

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

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

المؤلفون: Rosén, Anna, Krajc, Mateja, Ehrencrona, Hans, Bajalica-Lagercrantz, Svetlana

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

المؤلفون: McCrary, J Matt, Van Valckenborgh, Els, Poirel, Hélène A, de Putter, Robin, van Rooij, Jeroen, Horgan, Denis, Dierks, Marie-Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavicius, Ramunas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, Leitsalu, Liis, Mistrik, Martin, Paneque, Milena, Primorac, Dragan, Roetzer, Katharina, Ronez, Joelle, Lucie, Slámova, Spanou, Elena, Stamatopoulos, Kostas, Stoklosa, Tomasz, Strang-Karlsson, Sonja, Szakszon, Katalin, Szczałuba, Krzysztof, Turner, Jacqueline, van Dooren, Marieke F., van Zelst-Stams, Wendy, Vassallo, Loredana-Maria, Wadt, Karin A W, Žigman, Tamara, Ripperger, Tim, Genuardi, Maurizio, van den Bulcke, Marc, Bergmann, Anke K.

مصطلحات موضوعية: article, ddc:610

العلاقة: European journal of public health : official journal of the European Public Health Association -- Eur J Publ Health -- 1464-360X -- 1101-1262; https://doi.org/10.1093/eurpub/ckae093Test; https://mhh-publikationsserver.gbv.de/receive/mhh_mods_00002801Test; https://mhh-publikationsserver.gbv.de/servlets/MCRFileNodeServlet/mhh_derivate_00002693/ckae093.pdfTest

الإتاحة: https://doi.org/10.1093/eurpub/ckae093Test
https://mhh-publikationsserver.gbv.de/receive/mhh_mods_00002801Test
https://mhh-publikationsserver.gbv.de/servlets/MCRFileNodeServlet/mhh_derivate_00002693/ckae093.pdfTest

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

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

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