Kết quả tìm kiếm - Tham, Emma
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Exome sequencing in 51 early onset non‐familial CRC cases Bằng Thutkawkorapin, Jessada, Lindblom, Annika, Tham, Emma
Được phát hành 2019Text -
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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing Bằng Thutkawkorapin, Jessada, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel
Được phát hành 2020Text -
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Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients Bằng TZORTZATOS, GERASIMOS, ARAVIDIS, CHRISTOS, LINDBLOM, ANNIKA, MINTS, MIRIAM, THAM, EMMA
Được phát hành 2015Text -
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Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53 Bằng Omran, Meis, Blomqvist, Lennart, Brandberg, Yvonne, Pal, Niklas, Kogner, Per, Ståhlbom, Anne Kinhult, Tham, Emma, Bajalica-Lagercrantz, Svetlana
Được phát hành 2020Text -
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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients Bằng Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma
Được phát hành 2021Text -
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Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study Bằng Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela
Được phát hành 2022Text -
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Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden Bằng Andersson, Andreas, Hawranek, Carolina, Öfverholm, Anna, Ehrencrona, Hans, Grill, Kalle, Hajdarevic, Senada, Melin, Beatrice, Tham, Emma, Hellquist, Barbro Numan, Rosén, Anna
Được phát hành 2020Text -
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The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis Bằng Iacobaeus, Ellen, Amoudruz, Petra, Ström, Mikael, Khademi, Mohsen, Brundin, Lou, Hillert, Jan, Kockum, Ingrid, Malmström, Vivianne, Olsson, Tomas, Tham, Emma, Piehl, Fredrik
Được phát hành 2011Text -
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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population Bằng 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
Được phát hành 2022Text -
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Bằng Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann
Được phát hành 2015Text -
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families Bằng Karimi, Masoud, von Salomé, Jenny, Aravidis, Christos, Silander, Gustav, Askmalm, Marie Stenmark, Henriksson, Isabelle, Gebre-Medhin, Samuel, Frödin, Jan-Erik, Björck, Erik, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Tham, Emma
Được phát hành 2018Text -
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Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53) Bằng Omran, Meis, Tham, Emma, Brandberg, Yvonne, Ahlström, Håkan, Lundgren, Claudia, Paulsson-Karlsson, Ylva, Kuchinskaya, Ekaterina, Silander, Gustav, Rosén, Anna, Persson, Fredrik, Leonhardt, Henrik, Stenmark-Askmalm, Marie, Berg, Johanna, van Westen, Danielle, Bajalica-Lagercrantz, Svetlana, Blomqvist, Lennart
Được phát hành 2022Text -
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The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability Bằng Russell, Holly, Kedzierska, Katarzyna, Buchanan, Daniel D., Thomas, Rachael, Tham, Emma, Mints, Miriam, Keränen, Anne, Giles, Graham G., Southey, Melissa C., Milne, Roger L., Tomlinson, Ian, Church, David, Spurdle, Amanda B., O’Mara, Tracy A., Lewis, Annabelle
Được phát hành 2020Text -
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Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability Bằng Russell, Holly, Kedzierska, Katarzyna, Buchanan, Daniel D., Thomas, Rachael, Tham, Emma, Mints, Miriam, Keränen, Anne, Giles, Graham G., Southey, Melissa C., Milne, Roger L., Tomlinson, Ian, Church, David, Spurdle, Amanda B., O’Mara, Tracy A., Lewis, Annabelle
Được phát hành 2021Text -
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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients Bằng 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
Được phát hành 2021Text -
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... Bằng Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Được phát hành 2019Text -
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Defining the clinical phenotype of Saul-Wilson syndrome. Bằng Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.
Được phát hành 2020Text