Výsledky vyhledávání - Wincent, Josephine

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

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Erratum Autor Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie

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Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements Autor Eisfeldt, Jesper, Pettersson, Maria, Vezzi, Francesco, Wincent, Josephine, Käller, Max, Gruselius, Joel, Nilsson, Daniel, Syk Lundberg, Elisabeth, Carvalho, Claudia M. B., Lindstrand, 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... Autor 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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Cytogenetically visible inversions are formed by multiple molecular mechanisms Autor Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

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Presynaptic dysfunction in CASK-related neurodevelopmental disorders Autor Becker, Martin, Mastropasqua, Francesca, Reising, Jan Philipp, Maier, Simon, Ho, Mai-Lan, Rabkina, Ielyzaveta, Li, Danyang, Neufeld, Janina, Ballenberger, Lea, Myers, Lynnea, Moritz, Viveka, Kele, Malin, Wincent, Josephine, Willfors, Charlotte, Sitnikov, Rouslan, Herlenius, Eric, Anderlid, Britt-Marie, Falk, Anna, Bölte, Sven, Tammimies, Kristiina

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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination Autor Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C., Pie, Juan, Puisac, Beatriz, de Miranda, Noel FCC, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang

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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization Autor Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna

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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... Autor 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

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients Autor Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna

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