Αποτελέσματα αναζήτησης - THAM, EMMA
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pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing από Thutkawkorapin, Jessada, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel
Έκδοση 2020Κείμενο -
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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 από TZORTZATOS, GERASIMOS, ARAVIDIS, CHRISTOS, LINDBLOM, ANNIKA, MINTS, MIRIAM, THAM, EMMA
Έκδοση 2015Κείμενο -
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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 από Omran, Meis, Blomqvist, Lennart, Brandberg, Yvonne, Pal, Niklas, Kogner, Per, Ståhlbom, Anne Kinhult, Tham, Emma, Bajalica-Lagercrantz, Svetlana
Έκδοση 2020Κείμενο -
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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients από Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma
Έκδοση 2021Κείμενο -
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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 από Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela
Έκδοση 2022Κείμενο -
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Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden από Andersson, Andreas, Hawranek, Carolina, Öfverholm, Anna, Ehrencrona, Hans, Grill, Kalle, Hajdarevic, Senada, Melin, Beatrice, Tham, Emma, Hellquist, Barbro Numan, Rosén, Anna
Έκδοση 2020Κείμενο -
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The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis από Iacobaeus, Ellen, Amoudruz, Petra, Ström, Mikael, Khademi, Mohsen, Brundin, Lou, Hillert, Jan, Kockum, Ingrid, Malmström, Vivianne, Olsson, Tomas, Tham, Emma, Piehl, Fredrik
Έκδοση 2011Κείμενο -
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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 από 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
Έκδοση 2022Κείμενο -
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features από 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
Έκδοση 2015Κείμενο -
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families από 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
Έκδοση 2018Κείμενο -
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Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53) από 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
Έκδοση 2022Κείμενο -
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The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability από 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
Έκδοση 2020Κείμενο -
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Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability από 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
Έκδοση 2021Κείμενο -
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A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients από 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
Έκδοση 2021Κείμενο -
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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... από 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
Έκδοση 2019Κείμενο -
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Defining the clinical phenotype of Saul-Wilson syndrome. από 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.
Έκδοση 2020Κείμενο