Risultati della ricerca - Nordenskjöld, Magnus

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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... di 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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