المؤلفون: Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Bjoerck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjoe, Anna, Helgadottir, Hafdis T., Hellstroem-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindeloef, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann

المصدر: Genetics in Medicine. 24(11):2296-2307

مصطلحات موضوعية: Chromosomal microarray, Clinical diagnostics, FMR1 analysis, Genome sequencing, Intellectual disability

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191398Test
https://liu.diva-portal.org/smash/get/diva2:1733477/FULLTEXT01.pdfTest

المؤلفون: Caruana, Maryanne, Baars, Marieke J., Bashiardes, Evy, Benke, Kalman, Björck, Erik, Codreanu, Andrei, de Moya Rubio, Elena, Dumfarth, Julia, Evangelista, Arturo, Groenink, Maarten, Kallenbach, Klaus, Kempers, Marlies, Keravnou, Anna, Loeys, Bart, Muiño-Mosquera, Laura, Nagy, Edit, Milleron, Olivier, Nistri, Stefano, Pepe, Guglielmina, Roos-Hesselink, Jolien, Szabolcs, Zoltan, Teixidó-Tura, Gisela, Timmermans, Janneke, Van de Laar, Ingrid, van Kimmenade, Roland, Verstraeten, Aline, Von Kodolitsch, Yskert, De Backer, Julie, Jondeau, Guillaume

المصدر: Caruana , M , Baars , M J , Bashiardes , E , Benke , K , Björck , E , Codreanu , A , de Moya Rubio , E , Dumfarth , J , Evangelista , A , Groenink , M , Kallenbach , K , Kempers , M , Keravnou , A , Loeys , B , Muiño-Mosquera , L , Nagy , E , Milleron , O , Nistri , S , Pepe , G , Roos-Hesselink , J , Szabolcs , Z , Teixidó-Tura , G , Timmermans , J , Van de Laar , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/899d4eb7-1f16-403a-8cae-913bd8c1704cTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104673Test
https://pure.eur.nl/en/publications/899d4eb7-1f16-403a-8cae-913bd8c1704cTest
https://pure.eur.nl/ws/files/76955688/1_s2.0_S1769721222002543_main.pdfTest
http://www.scopus.com/inward/record.url?scp=85143869145&partnerID=8YFLogxKTest

المؤلفون: Caruanac, Maryanne, Baars, Marieke J., Bashiardes, Evy, Benke, Kalman, Björck, Erik, Codreanu, Andrei, Evangelista Masip, Artur

المساهمون: Institut Català de la Salut, Caruana M Department of Cardiology, Mater Dei Hospital, VASCERN HTAD Affiliated Partner Centre, Malta. Baars MJ Department of Cardiology, Academic Medical Centre, Amsterdam, VASCERN HTAD European Reference Centre, the Netherlands. Bashiardes E Department of Cardiovascular Genetics and Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, VASCERN HTAD Affiliated Partner Centre, Cyprus. Benke K Semmelweis University Heart and Vascular Centre, Budapest, VASCERN HTAD European Reference Centre, Hungary. Björck E Department of Clinical Genetics, Karolinska University Hospital, Stockholm, VASCERN HTAD European Reference Centre, Sweden. Codreanu A Centre Hospitalier de Luxembourg, VASCERN HTAD Affiliated Partner Centre, Luxembourg. Evangelista A Vall d’Hebron Hospital Universitari, Barcelona, Spain. VASCERN HTAD European Reference Centre, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Cromosomes humans - Anomalies - Diagnòstic, Aneurismes aòrtics - Aspectes genètics, Aneurismes aòrtics - Diagnòstic, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Investigative Techniques::Genetic Techniques::Genetic Testing, DISEASES::Cardiovascular Diseases::Vascular Diseases::Aneurysm::Aortic Aneurysm::Aortic Aneurysm, Thoracic, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Cardiovascular Diseases::Vascular Diseases::Aneurysm::Aneurysm, Dissecting, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas de investigación::técnicas genéticas::pruebas genéticas, ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::aneurisma::aneurisma de la aorta::aneurisma de la aorta torácica, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::aneurisma::aneurisma disecante

وصف الملف: application/pdf

العلاقة: European Journal of Medical Genetics;66(1); https://doi.org/10.1016/j.ejmg.2022.104673Test; Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, et al. HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN. Eur J Med Genet. 2023 Jan;66(1):104673.; https://hdl.handle.net/11351/9037Test; 000902070900014

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104673Test
https://hdl.handle.net/11351/9037Test

المؤلفون: De Geer, Karl, Mascianica, Katarzyna, Naess, Karin, Sardh, Eliane, Lindstrand, Anna, Björck, Erik

المساهمون: Karolinska Institute

المصدر: BMC Ophthalmology ; volume 23, issue 1 ; ISSN 1471-2415

مصطلحات موضوعية: Ophthalmology, General Medicine

الإتاحة: https://doi.org/10.1186/s12886-023-03136-4Test

المؤلفون: Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt-Robinson, Kristina, Gebre-Medhin, Samuel

مصطلحات موضوعية: colorectal cancer, genetic testing, hereditary, polyposis, syndrome, variant classification, Cancer and Oncology, Cancer och onkologi, Medical Genetics, Medicinsk genetik

وصف الملف: application/pdf

العلاقة: Genes, Chromosomes and Cancer, 1045-2257, 2022, 61:10, s. 585-591; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485930Test; PMID 35430768; ISI:000789595100001

الإتاحة: https://doi.org/10.1002/gcc.23049Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485930Test

المؤلفون: Sturesson Stabel, Linda, McGrath, Cormac, Björck, Erik, Elmberger, Agnes, Bolander Laksov, Klara

مصطلحات موضوعية: CME Continuing medical education, CPD Continuous professional development, General practitioner, Lifelong learning, Medical doctors, Medical specialists, Physicians, Workplace learning, Pedagogy, Pedagogik

وصف الملف: application/pdf

العلاقة: Vocations and Learning, 1874-785X, 2022, 15:3, s. 427-448; orcid:0000-0002-8215-3646; orcid:0000-0002-3345-3810; http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-216182Test; ISI:000824869400001; Scopus 2-s2.0-85133646442

الإتاحة: https://doi.org/10.1007/s12186-022-09295-7Test
http://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-216182Test

المؤلفون: Elmberger, Agnes, Blitz, Julia, Björck, Erik, Nieminen, Juha, Bolander Laksov, Klara

المساهمون: Stockholms Läns Landsting, Svenska Läkaresällskapet, Karolinska Institutet

المصدر: Medical Education ; volume 57, issue 7, page 679-688 ; ISSN 0308-0110 1365-2923

الإتاحة: https://doi.org/10.1111/medu.14992Test

المؤلفون: Liljedahl, Matilda, Björck, Erik, Bolander Laksov, Klara

المساهمون: Stockholms Läns Landsting, University of Gothenburg

المصدر: Advances in Health Sciences Education ; volume 28, issue 3, page 811-826 ; ISSN 1382-4996 1573-1677

مصطلحات موضوعية: Education, General Medicine

الإتاحة: https://doi.org/10.1007/s10459-022-10195-7Test

المؤلفون: Stabel, Linda Sturesson, McGrath, Cormac, Björck, Erik, Elmberger, Agnes, Laksov, Klara Bolander

المساهمون: Stockholms Läns Landsting, Stockholm University

المصدر: Vocations and Learning ; volume 15, issue 3, page 427-448 ; ISSN 1874-785X 1874-7868

مصطلحات موضوعية: Education

الإتاحة: https://doi.org/10.1007/s12186-022-09295-7Test

المؤلفون: Lagerstedt-Robinson, Kristina, Baranowska Körberg, Izabella, Tsiaprazis, Stefanos, Björck, Erik, Tham, Emma, Poluha, Anna, Hellström Pigg, Maritta, Paulsson-Karlsson, Ylva, Nordenskjöld, Magnus, Johansson-Soller, Maria, Aravidis, Christos

المساهمون: Bandapalli, Obul Reddy

المصدر: PLOS ONE ; volume 17, issue 2, page e0264056 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0264056Test