Rezultati pretrage - THAM, EMMA

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst