Ngā hua rapu - Tham, Emma

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  1. 1
    Exome sequencing in 51 early onset non‐familial CRC cases

    Exome sequencing in 51 early onset non‐familial CRC cases mā Thutkawkorapin, Jessada, Lindblom, Annika, Tham, Emma

    I whakaputaina 2019
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  2. 2
    pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing mā Thutkawkorapin, Jessada, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

    I whakaputaina 2020
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  3. 3
    Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

    Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis mā Wallander, Karin, Thonberg, Håkan, Nilsson, Daniel, Tham, Emma

    I whakaputaina 2021
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  4. 4
    Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

    Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis mā Wallander, Karin, Thonberg, Håkan, Nilsson, Daniel, Tham, Emma

    I whakaputaina 2021
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  5. 5
    Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

    Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients mā TZORTZATOS, GERASIMOS, ARAVIDIS, CHRISTOS, LINDBLOM, ANNIKA, MINTS, MIRIAM, THAM, EMMA

    I whakaputaina 2015
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  6. 6
    Familial cancer among consecutive uterine cancer patients in Sweden

    Familial cancer among consecutive uterine cancer patients in Sweden mā Tzortzatos, Gerasimos, Wersäll, Ofra, Danielsson, Kristina Gemzell, Lindblom, Annika, Tham, Emma, Mints, Miriam

    I whakaputaina 2014
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  7. 7
    Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

    Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53 mā Omran, Meis, Blomqvist, Lennart, Brandberg, Yvonne, Pal, Niklas, Kogner, Per, Ståhlbom, Anne Kinhult, Tham, Emma, Bajalica-Lagercrantz, Svetlana

    I whakaputaina 2020
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  8. 8
    Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

    Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients mā Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma

    I whakaputaina 2021
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  9. 9
    Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

    Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study mā Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela

    I whakaputaina 2022
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  10. 10
    Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

    Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden mā Andersson, Andreas, Hawranek, Carolina, Öfverholm, Anna, Ehrencrona, Hans, Grill, Kalle, Hajdarevic, Senada, Melin, Beatrice, Tham, Emma, Hellquist, Barbro Numan, Rosén, Anna

    I whakaputaina 2020
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  11. 11
    The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis

    The Expression of VEGF-A Is Down Regulated in Peripheral Blood Mononuclear Cells of Patients with Secondary Progressive Multiple Sclerosis mā Iacobaeus, Ellen, Amoudruz, Petra, Ström, Mikael, Khademi, Mohsen, Brundin, Lou, Hillert, Jan, Kockum, Ingrid, Malmström, Vivianne, Olsson, Tomas, Tham, Emma, Piehl, Fredrik

    I whakaputaina 2011
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  12. 12
    A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

    A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population mā 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

    I whakaputaina 2022
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  13. 13
    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features mā 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

    I whakaputaina 2015
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  14. 14
    A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

    A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families mā 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

    I whakaputaina 2018
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  15. 15
    Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)

    Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53) mā 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

    I whakaputaina 2022
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  16. 16
    The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

    The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability mā 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

    I whakaputaina 2020
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  17. 17
    Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

    Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability mā 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

    I whakaputaina 2021
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  18. 18
    A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

    A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients mā 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

    I whakaputaina 2021
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  19. 19
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... mā 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

    I whakaputaina 2019
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  20. 20
    Defining the clinical phenotype of Saul-Wilson syndrome.

    Defining the clinical phenotype of Saul-Wilson syndrome. mā 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.

    I whakaputaina 2020
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