Hakutulokset - Nordenskjöld, Magnus

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women Tekijä Sahlin, Ellika, Nordenskjöld, Magnus, Gustavsson, Peter, Wincent, Josephine, Georgsson, Susanne, Iwarsson, Erik

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Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden Tekijä Georgsson, Susanne, Sahlin, Ellika, Iwarsson, Moa, Nordenskjöld, Magnus, Gustavsson, Peter, Iwarsson, Erik

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Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 Tekijä Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per

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Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris Tekijä Winge, Mårten C. G., Hoppe, Torborg, Berne, Berit, Vahlquist, Anders, Nordenskjöld, Magnus, Bradley, Maria, Törmä, Hans

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Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity Tekijä Wang, Xiangling, Ottosson, Astrid, Ji, Chunyan, Feng, Xiaoli, Nordenskjöld, Magnus, Henter, Jan-Inge, Fadeel, Bengt, Zheng, Chengyun

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Haploinsufficiency of UNC13D increases the risk of lymphoma Tekijä Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan‐Inge, Meeths, Marie

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

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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 Tekijä Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela

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Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes Tekijä Sääf, Annika M., Tengvall-Linder, Maria, Chang, Howard Y., Adler, Adam S., Wahlgren, Carl-Fredrik, Scheynius, Annika, Nordenskjöld, Magnus, Bradley, Maria

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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth Tekijä Sahlin, Ellika, Gréen, Anna, Gustavsson, Peter, Liedén, Agne, Nordenskjöld, Magnus, Papadogiannakis, Nikos, Pettersson, Karin, Nilsson, Daniel, Jonasson, Jon, Iwarsson, Erik

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Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells Tekijä Khandagale, Avinash, Holmlund, Teresa, Entesarian, Miriam, Nilsson, Daniel, Kalwak, Krzysztof, Klaudel‐Dreszler, Maja, Carlsson, Göran, Henter, Jan‐Inge, Nordenskjöld, Magnus, Fadeel, Bengt

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High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing Tekijä Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela

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An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2 Tekijä Müller, Martha-Lena, Chiang, Samuel C. C., Meeths, Marie, Tesi, Bianca, Entesarian, Miriam, Nilsson, Daniel, Wood, Stephanie M., Nordenskjöld, Magnus, Henter, Jan-Inge, Naqvi, Ahmed, Bryceson, Yenan T.

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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 Tekijä 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

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Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11 Tekijä Nakamura, Yusuke, Larsson, Catharina, Julier, Cecile, Byström, Camilla, Skogseid, Britt, Wells, Samuel, Öberg, Kjell, Carlson, Mary, Taggart, Thomas, O'Connell, Peter, Leppert, Mark, Lalouel, Jean-Marc, Nordenskjöld, Magnus, White, Ray

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Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target Tekijä Baryawno, Ninib, Rahbar, Afsar, Wolmer-Solberg, Nina, Taher, Chato, Odeberg, Jenny, Darabi, Anna, Khan, Zahidul, Sveinbjörnsson, Baldur, FuskevÅg, O.-M., Segerström, Lova, Nordenskjöld, Magnus, Siesjö, Peter, Kogner, Per, Johnsen, John Inge, Söderberg-Nauclér, Cecilia

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Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis Tekijä Liedén, Agne, Winge, Mårten C. G., Sääf, Annika, Kockum, Ingrid, Ekelund, Elisabeth, Rodriguez, Elke, Fölster-Holst, Regina, Franke, Andre, Illig, Thomas, Tengvall-Linder, Maria, Baurecht, Hansjörg, Weidinger, Stephan, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Bradley, Maria

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Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome Tekijä Chan, Chi-Bun, Abe, Michiyo, Hashimoto, Noriyoshi, Hao, Chunhai, Williams, Ifor R., Liu, Xia, Nakao, Shinji, Yamamoto, Akitsugu, Zheng, Chengyun, Henter, Jan-Inge, Meeths, Marie, Nordenskjold, Magnus, Li, Shi-Yong, Hara-Nishimura, Ikuko, Asano, Masahide, Ye, Keqiang

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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 Tekijä Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna

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Whole genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of microhomology in... Tekijä Nilsson, Daniel, Pettersson, Maria, Gustavsson, Peter, Förster, Alisa, Hofmeister, Wolfgang, Wincent, Josephine, Zachariadis, Vasilios, Anderlid, Britt-Marie, Nordgren, Ann, Mäkitie, Outi, Wirta, Valtteri, Käller, Max, Vezzi, Francesco, Lupski, James R, Nordenskjöld, Magnus, Lundberg, Elisabeth Syk, Carvalho, Claudia M. B., Lindstrand, Anna

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