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1دورية أكاديمية
المؤلفون: Lehtokari, Vilma Lotta, Sagath, Lydia, Davis, Mark, Ho, Desiree, Kiiski, Kirsi, Kettunen, Kaisa, Demczko, Matthew, Stein, Riki, Vatta, Matteo, Winder, Thomas L., Shohet, Adi, Orenstein, Naama, Krcho, Peter, Bohuš, Peter, Huovinen, Sanna, Udd, Bjarne, Pelin, Katarina, Laing, Nigel G., Wallgren-Pettersson, Carina
المساهمون: Tampere University, Department of Pathology
مصطلحات موضوعية: 3111 Biomedicine
وصف الملف: fulltext
العلاقة: 34; https://trepo.tuni.fi/handle/10024/155275Test; URN:NBN:fi:tuni-202402272577
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2دورية أكاديمية
المؤلفون: Lehtokari, Vilma-Lotta, Sagath, Lydia, Davis, Mark, Ho, Desiree, Kiiski, Kirsi, Kettunen, Kaisa, Demczko, Matthew, Stein, Riki, Vatta, Matteo, Winder, Thomas L., Shohet, Adi, Orenstein, Naama, Krcho, Peter, Bohuš, Peter, Huovinen, Sanna, Udd, Bjarne, Pelin, Katarina, Laing, Nigel G., Wallgren-Pettersson, Carina
المساهمون: Faculty Common Matters (Faculty of Medicine), Department of Medical and Clinical Genetics, Molecular and Integrative Biosciences Research Programme, HUSLAB, HUS Diagnostic Center, Katarina Pelin / Principal Investigator, Medicum
مصطلحات موضوعية: ACTA1, Congenital myopathy, Genetic mosaicism, Nemaline myopathy, Skeletal muscle alpha-actin, Biomedicine
وصف الملف: application/pdf
العلاقة: This study was supported by grants from the Sigrid Jusélius Foundation, the Academy of Finland, Muscular Dystrophy UK, the Finska Läkaresällskapet, the Medicinska understödsföreningen Liv och Hälsa, the Jane and Aatos Erkko Foundation, the Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns minne, and the Helsinki University Hospital Special Funding for University Level Health Research.; Lehtokari , V-L , Sagath , L , Davis , M , Ho , D , Kiiski , K , Kettunen , K , Demczko , M , Stein , R , Vatta , M , Winder , T L , Shohet , A , Orenstein , N , Krcho , P , Bohuš , P , Huovinen , S , Udd , B , Pelin , K , Laing , N G & Wallgren-Pettersson , C 2024 , ' A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy ' , Neuromuscular Disorders , vol. 34 , pp. 32-40 . https://doi.org/10.1016/j.nmd.2023.11.009Test; ORCID: /0000-0002-6754-3830/work/152341668; ORCID: /0000-0002-7040-7266/work/152343347; ORCID: /0000-0001-7402-461X/work/152346262; ORCID: /0000-0002-8276-0972/work/152353802; http://hdl.handle.net/10138/570649Test; ec772cd4-204a-4d8d-be39-d36b3b39f6b8; 85180564979; 001146670000001
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3دورية أكاديمية
المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, Franca, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G
مصطلحات موضوعية: Neuromuscular
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/95/2/103Test; http://dx.doi.org/10.1136/jnnp-2023-332132Test
الإتاحة: https://doi.org/10.1136/jnnp-2023-332132Test
http://jnnp.bmj.com/cgi/content/short/95/2/103Test -
4دورية أكاديمية
المؤلفون: Kafka, Mona, Giannini, Giulia, Artamonova, Nastasiia, Neuwirt, Hannes, Ofner, Heidemarie, Kramer, Gero, Bauernhofer, Thomas, Luger, Ferdinand, Höfner, Thomas, Loidl, Wolfgang, Griessner, Hubert, Lusuardi, Lukas, Bergmaier, Antonia, Berger, Andreas, Winder, Thomas, Weiss, Sarah, Bauinger, Severin, Krause, Steffen, Drerup, Martin, Heinrich, Elmar, Schneider, Magdalena, Madersbacher, Stephan, Vallet, Sonia, Stoiber, Franz, Laimer, Sarah, Hruby, Stephan, Schachtner, Gert, Nagele, Udo, Lenart, Sebastian, Ponholzer, Anton, Pfuner, Jacob, Wiesinger, Clemens, Kamhuber, Christoph, Müldür, Ecan, Bektic, Jasmin, Horninger, Wolfgang, Heidegger, Isabel
المساهمون: Medizinische Universitat Innsbruck
المصدر: Clinical Genitourinary Cancer ; volume 22, issue 2, page 458-466.e1 ; ISSN 1558-7673
الإتاحة: https://doi.org/10.1016/j.clgc.2023.12.018Test
https://api.elsevier.com/content/article/PII:S1558767324000028?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1558767324000028?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G
المصدر: Journal of Neurology, Neurosurgery and Psychiatry (2023) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10183851Test/
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6دورية أكاديمية
المصدر: BMC Cancer ; volume 23, issue 1 ; ISSN 1471-2407
مصطلحات موضوعية: Cancer Research, Genetics, Oncology
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7دورية أكاديمية
المؤلفون: Barth, Dominik A, Moik, Florian, Steinlechner, Sarah, Posch, Florian, Mayer, Marie-Christina, Sandner, Amelie M, Berton, Franziska, Schlintl, Verena, Koch, Lukas, John, Nikolaus, Wurm, Robert, Pichler, Martin, Bauernhofer, Thomas, Reimann, Patrick, Wohlkönig, Christoph, Richtig, Erika, Winder, Thomas, Preusser, Matthias, Jost, Philipp J, Ay, Cihan, Gerger, Armin, Terbuch, Angelika, Riedl, Jakob Michael
المساهمون: Roche Austria GmbH, Christian Doppler Research Association, the Austrian Federal Ministry for Digital and Economic Affairs, the Austrian National Foundation, AstraZeneca GmbH,Bristol, Merck Sharp & Dohme Ges.m.b.H., Myers Squibb GesmbH, Sanofi-aventis GmbH
المصدر: Journal for ImmunoTherapy of Cancer ; volume 11, issue 12, page e007765 ; ISSN 2051-1426
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8دورية أكاديمية
المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G
المساهمون: NINDS/NIH, Harvard Center for Mendelian Genomics, CDMRP, National Heart, Lung, and Blood Institute, National Eye Institute, National Human Genome Research Institute, Broad Institute of MIT, Fundação de Amparo à Pesquisa do Estado de São Paulo
المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 95, issue 2, page 103-113 ; ISSN 0022-3050 1468-330X
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9دورية أكاديمية
المؤلفون: Taghizadeh, Hossein, Djanani, Angela, Eisterer, Wolfgang, Gerger, Armin, Gruenberger, Birgit, Gruenberger, Thomas, Rumpold, Holger, Weiss, Lukas, Winder, Thomas, Wöll, Ewald, Prager, Gerald W.
المصدر: Frontiers in Oncology ; volume 13 ; ISSN 2234-943X
مصطلحات موضوعية: Cancer Research, Oncology
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10
المؤلفون: Illini, Oliver, Fabikan, Hannah, Swalduz, Aurelie, Vikström, Anders, Krenbek, Dagmar, Schumacher, Michael, Dudnik, Elizabeth, Studnicka, Michael, Ohman, Ronny, Wurm, Robert, Wannesson, Luciano, Peled, Nir, Kian, Waleed, Bar, Jair, Daher, Sameh, Addeo, Alfredo, Rotem, Ofer, Pall, Georg, Zer, Alona, Saad, Akram, Cufer, Tanja, Sorotsky, Hadas Gantz, Hashemi, Sayed M. S., Mohorcic, Katja, Stoff, Ronen, Rovitsky, Yulia, Keren-Rosenberg, Shoshana, Winder, Thomas, Weinlinger, Christoph, Valipour, Arschang, Hochmair, Maximilian J.
المصدر: Therapeutic Advances in Medical Oncology. 14
مصطلحات موضوعية: capmatinib, MET exon 14 skipping mutation, NSCLC, lung cancer, targeted therapy
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-187553Test
https://liu.diva-portal.org/smash/get/diva2:1690353/FULLTEXT01.pdfTest
