المؤلفون: Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.

المصدر: Genetics in Medicine. 23(1):47-58

مصطلحات موضوعية: variant interpretation, LQTS, Brugada, ACMG/AMP guidelines

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-175470
https://doi.org/10.1038/s41436-020-00946-5
https://umu.diva-portal.org/smash/get/diva2:1472613/FULLTEXT02.pdf

المؤلفون: Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, Elisabeth

المصدر: Ophthalmic Genetics MultiPark: Multidisciplinary research focused on Parkinson´s disease. 40(3):227-236

مصطلحات موضوعية: Danon disease, hypertrophic cardiomyopathy, mosaic mutation in LAMP2, peripheral pigmentary retinal dystrophy, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/47d1c0f2-34c7-44c4-906e-591894f2b4b8
http://dx.doi.org/10.1080/13816810.2019.1627464

المؤلفون: Lundin, Catarina Petersson.

مصطلحات موضوعية: Breast Breast Breast Breast Neoplasms Precancerous Conditions. Cytogenetics.

الاتاحة: http://catalog.hathitrust.org/api/volumes/oclc/39738708.html

المؤلفون: Baturova, Maria A, Svensson, Anneli, Aneq, Meriam Åström, Svendsen, Jesper H, Risum, Niels, Sherina, Valeriia, Bundgaard, Henning, Meurling, Carl, Lundin, Catarina, Carlson, Jonas, Platonov, Pyotr G

المساهمون: The Swedish Heart-Lung Foundation, Swedish healthcare system, The Swedish Institute, Theo-Rossi di Montelera (TRM) foundation

المصدر: EP Europace ; volume 23, issue Supplement_1, page i29-i37 ; ISSN 1099-5129 1532-2092

الاتاحة: https://doi.org/10.1093/europace/euaa388
http://academic.oup.com/europace/article-pdf/23/Supplement_1/i29/36455692/euaa388.pdf

المؤلفون: Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter, Amin, Ahmad, Nannenberg, Eline, Ware, James, Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt, Bézieau, Stéphane, Bos, J Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick, Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen, Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid, Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart, Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël, Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary, Shimamoto, Keiko, Shoemaker, M Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David, Usuda, Keisuke, van Der Zwaag, Paul, van Dooren, Sonia, van Laer, Lut, Winbo, Annika, Winkel, Bo, Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul, Lubitz, Steven, Antzelevitch, Charles, Platonov, Pyotr, Odening, Katja, Roden, Dan, Roberts, Jason, Skinner, Jonathan, Tfelt-Hansen, Jacob, van den Berg, Maarten, Olesen, Morten, Lambiase, Pier, Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan, Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela, Ackerman, Michael, Brugada, Ramon, Brugada, Josep, Gimeno, Juan, Hasdemir, Can, Guicheney, Pascale, Priori, Silvia, Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter, Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah, Barc, Julien, Bezzina, Connie

المساهمون: ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: ACMG/AMP guidelines, Brugada, LQTS, variant interpretation, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32893267; PUBMED: 32893267

الاتاحة: https://hal.sorbonne-universite.fr/hal-02946962
https://hal.sorbonne-universite.fr/hal-02946962v1/document
https://hal.sorbonne-universite.fr/hal-02946962v1/file/s41436-020-00946-5.pdf
https://doi.org/10.1038/s41436-020

المؤلفون: Paulussen, Aimee D. C., Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence H. J., Krapels, Ingrid P. C., Claes, Godelieve R. F., Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J. M., Bakkers, Jeroen, van den Wijngaard, Arthur

المصدر: Paulussen , A D C , Steyls , A , Vanoevelen , J , van Tienen , F H J , Krapels , I P C , Claes , G R F , Chocron , S , Velter , C , Tan-Sindhunata , G M , Lundin , C , Valenzuela , I , Nagy , B , Bache , I , Maroun , L L , Avela , K , Brunner , H G , Smeets , H J M , Bakkers , J & van den Wijngaard , A 2016 , ' Rare novel variants in the ....

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/711850af-637f-43e2-b3df-e123031fe4da
https://doi.org/10.1038/ejhg.2016.91

المؤلفون: Lundin, Catarina, Forestier, Erik, Andersen, Mette Klarskov, Autio, Kirsi, Barbany, Gisela, Cavelier, Lucia, Golovleva, Irina, Heim, Sverre, Heinonen, Kristiina, Hovland, Randi, Johannsson, Johann H., Kjeldsen, Eigil, Nordgren, Ann, Palmqvist, Lars, Johansson, Bertil, Nordic Soc Pediat Hematology Oncol, Swedish Cytogenetic Leukemia Study, NOPHO Leukemia Cytogenetic Study G

المساهمون: Clinicum

مصطلحات موضوعية: Down syndrome, ALL, Children, Clinical features, Genetic features, Prognosis, CHILDRENS ONCOLOGY GROUP, CHILDHOOD, DELETIONS, CRLF2, JAK2, ABNORMALITIES, CHROMOSOME, EXPRESSION, MANAGEMENT, Cancers

وصف الملف: application/pdf

Relation: This work was supported by the Swedish Childhood Cancer Foundation, the Swedish Cancer Society, and the Swedish Research Council.; Lundin , C , Forestier , E , Andersen , M K , Autio , K , Barbany , G , Cavelier , L , Golovleva , I , Heim , S , Heinonen , K , Hovland , R , Johannsson , J H , Kjeldsen , E , Nordgren , A , Palmqvist , L , Johansson , B , Nordic Soc Pediat Hematology Oncol , Swedish Cytogenetic Leukemia Study & NOPHO Leukemia Cytogenetic Study G 2014 , ' Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries ' , Pediatric hematology and oncology , vol. 7 , 32 . https://doi.org/10.1186/1756-8722-7-32; http://hdl.handle.net/10138/162480; 4f47951c-409d-4047-921f-38ba648c90d8; 84899990860; 000336058600001

الاتاحة: http://hdl.handle.net/10138/162480

المؤلفون: Lundin, Catarina, Forestier, Erik, Klarskov Andersen, Mette, Autio, Kirsi, Barbany, Gisela, Cavelier, Lucia, Golovleva, Irina, Heim, Sverre, Heinonen, Kristiina, Hovland, Randi, Johannsson, Johann H, Kjeldsen, Eigil, Nordgren, Ann, Palmqvist, Lars, Johansson, Bertil

المساهمون: 1 Univ & Reg Labs, Dept Clin Genet, SE-22185 Lund, Sweden 2 Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden 3 Umea Univ, Dept Med Biosci, Umea, Sweden 4 Univ Copenhagen Hosp, Rigshosp, Cytogenet Lab, DK-2100 Copenhagen, Denmark 5 Helsinki & Uusimaa Hosp Grp, HUSLAB, Genet Lab, Helsinki, Finland 6 Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden 7 Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden 8 Univ Oslo, Oslo Univ Hosp, Norwegian Radium Hosp, Sect Canc Cytogenet,Inst Med Informat, Oslo, Norway 9 Univ Oslo, Fac Med, Ctr Canc Biomed, Oslo, Norway 10 ISLAB, Genet Lab, Kuopio, Finland 11 Haukeland Hosp, Ctr Med Genet & Mol Med, Helse Bergen, HF, Norway 12 Univ Hosp, Dept Clin Genet & Cytogenet, Reykjavik, Iceland 13 Aarhus Univ Hosp, Dept Hematol, Canc Cytogenet Lab, DK-8000 Aarhus, Denmark 14 Sahlgrens Univ Hosp, Dept Clin Chem & Transfus Med, S-41345 Gothenburg, Sweden

مصطلحات موضوعية: Downs heilkenni, Litningagallar, Bráðahvítblæði, Adolescent, Child, Preschool, Chromosome Aberrations, Chromosome Banding, Denmark, Disease-Free Survival, Down Syndrome, Female, Finland, Humans, Iceland, In Situ Hybridization, Fluorescence, Infant, Karyotype, Karyotyping, Leukocyte Count, Male, Norway, Platelet Count, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Registries, Sweden, Treatment Outcome

Relation: http://dx.doi.org/ 10.1186/1756-8722-7-32; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022076/; J Hematol Oncol. 2014, 7:32; http://hdl.handle.net/2336/552370; Journal of hematology & oncology

الاتاحة: http://hdl.handle.net/2336/552370
https://doi.org/10.1186/1756-8722-7-32

المؤلفون: Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon

المصدر: Journal of Hematology & Oncology. 7

مصطلحات موضوعية: Williams-Beuren syndrome, Non-Hodgkin Lymphoma, 7q11.23, Cancer, predisposition, DNA repair, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/4960519
https://portal.research.lu.se/files/3268152/7695417
http://dx.doi.org/10.1186/s13045-014-0082-4

المؤلفون: Baturova, Maria A., Svensson, Anneli, Aneq, Meriam Åström, Svendsen, Jesper H., Risum, Niels, Sherina, Valeriia, Bundgaard, Henning, Meurling, Carl, Lundin, Catarina, Carlson, Jonas, Platonov, Pyotr G.

المصدر: Baturova , M A , Svensson , A , Aneq , M Å , Svendsen , J H , Risum , N , Sherina , V , Bundgaard , H , Meurling , C , Lundin , C , Carlson , J & Platonov , P G 2021 , ' Evolution of P-wave indices during long-term follow-up as markers of atrial substrate progression in arrhythmogenic right ventricular cardiomyopathy ' , Europace , vol. 23 , no. 1 , pp. i29-i37 .

مصطلحات الفهرس: Arrhythmogenic cardiomyopathy, Atrial fibrillation, P-terminal force in lead V1, P-wave area in lead V1, P-wave area in lead V2, article

URL: https://curis.ku.dk/portal/da/publications/evolution-of-pwave-indices-during-longterm-followup-as-markers-of-atrial-substrate-progression-in-arrhythmogenic-right-ventricular-cardiomyopathy(0c8e0827-5fe7-4979-a229-249f23d6aaf3).html
https://doi.org/10.1093/europace/euaa388

المؤلفون: Ljunger, Elisabeth, Stavreus-Evers, Anneli, Cnattingius, Sven, Ekbom, Anders, Lundin, Catarina, Annéren, Göran, Sundström-Poromaa, Inger

المصدر: Fertility and Sterility ; volume 95, issue 1, page 221-224 ; ISSN 0015-0282

الاتاحة: http://dx.doi.org/10.1016/j.fertnstert.2010.06.018
https://api.elsevier.com/content/article/PII:S0015028210009490?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0015028210009490?httpAccept=text/plain

المؤلفون: Lundin, Catarina, Heldrup, Jesper, Ahlgren, Tomas, Olofsson, Tor, Johansson, Bertil

المصدر: European Journal of Haematology ; volume 82, issue 1, page 46-53 ; ISSN 0902-4441 1600-0609

الاتاحة: http://dx.doi.org/10.1111/j.1600-0609.2008.01166.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1600-0609.2008.01166.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1600-0609.2008.01166.x

المؤلفون: Forestier, Erik, Heim, Sverre, Blennow, Elisabeth, Borgström, Georg, Holmgren, Gösta, Heinonen, Kristiina, Johannsson, Johann, Kerndrup, Gitte, Andersen, Mette Klarskov, Lundin, Catarina, Nordgren, Ann, Rosenquist, Richard, Swolin, Birgitta, Johansson, Bertil

المصدر: British Journal of Haematology ; volume 121, issue 4, page 566-577 ; ISSN 0007-1048 1365-2141

الاتاحة: http://dx.doi.org/10.1046/j.1365-2141.2003.04349.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1365-2141.2003.04349.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2141.2003.04349.x

المؤلفون: Savelev, Aleksei, Dahlberg, Pia, Christensen, Alex, Bugge, Cecilie, Bulatovic, Ivana, Svensson, Anneli, Leren, Ida S., Kock, Thilde O., Gardovic, Teodora, Roijer, Rebecka, Markljung, Minna, Ringborn, Michael, Graff, Claus, Lundin, Catarina, Larsson, Nina, Bundgaard, Henning, Haugaa, Kristina H., Platonov, Pyotr G.

المصدر: Heart Rhythm; 2024 Supplement, Vol. 21 Issue 5, pS295-S296, 2p

المؤلفون: Lundin, Catarina, Biloglav, Andrea, Karlsson, Karin, Olofsson, Tor, Paulsson, Kajsa, Johansson, Bertil

المصدر: Leukemia Research: A Forum for Studies on Leukemia and Normal Hemopoiesis. 35:75-76

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/1756177
https://portal.research.lu.se/files/5136550/1766835.pdf
http://www.ncbi.nlm.nih.gov/pubmed/21168209?dopt=Abstract
http://dx.doi.org/10.1016/j.leukres.2010.11.022

المؤلفون: Lundin, Catarina, Hjorth, Lars, Behrendtz, Mikael, Ehinger, Mats, Biloglav, Andrea, Johansson, Bertil

المصدر: Genes, Chromosomes and Cancer. 52(4):370-377

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-90183

المؤلفون: Fernlund, Eva, Lundin, Catarina, Hertervig, Eva, Kongstad Rasmussen, Ole, Alders, M, Platonov, Pyotr

المصدر: Annals of Noninvasive Electrocardiology. 18(5):471-478

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Kardiologi, Medical and Health Sciences, Clinical Medicine, Cardiac and Cardiovascular Systems

URL الوصول: https://lup.lub.lu.se/record/4065661
http://www.ncbi.nlm.nih.gov/pubmed/24047492?dopt=Abstract
http://dx.doi.org/10.1111/anec.12074

المؤلفون: Lundin, Catarina, Hjorth, Lars, Behrendtz, Mikael, Nordgren, Ann, Palmqvist, Lars, 1965, Andersen, Mette Klarskov, Biloglav, Andrea, Forestier, Erik, Paulsson, Kajsa, Johansson, Bertil

المصدر: Genes, chromosomes & cancer. 51(2):196-206

مصطلحات موضوعية: Medical Genetics and Genomics, Medicinsk genetik och genomik, Hematology, Hematologi

URL الوصول: https://gup.ub.gu.se/publication/150612

المؤلفون: Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, Van Tienen, Florence H J, Krapels, Ingrid P C, Claes, Godelieve R F, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M., Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G., Smeets, Hubert J M, Bakkers, Jeroen, Van Den Wijngaard, Arthur

المساهمون: Hubrecht Institute with UMC, Medische Fysiologie, Circulatory Health

مصطلحات موضوعية: Genetics, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/345844

الاتاحة: https://dspace.library.uu.nl/handle/1874/345844