檢索結果 - Gustavsson, Peter

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women 由 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 由 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 由 Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per

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Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations 由 Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta

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Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain 由 Leung, Kit-Yi, De Castro, Sandra C. P., Cabreiro, Filipe, Gustavsson, Peter, Copp, Andrew J., Greene, Nicholas D. E.

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

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Lamin B1 Polymorphism Influences Morphology of the Nuclear Envelope, Cell Cycle Progression, and Risk of Neural Tube Defects in Mice 由 De Castro, Sandra C. P., Malhas, Ashraf, Leung, Kit-Yi, Gustavsson, Peter, Vaux, David J., Copp, Andrew J., Greene, Nicholas D. E.

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Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association 由 Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta

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Is LMNB1 a Susceptibility Gene for Neural Tube Defects in Humans? 由 Robinson, Alexis, Partridge, Darren, Malhas, Ashraf, De Castro, Sandra CP, Gustavsson, Peter, Thompson, Dominic N, Vaux, David J, Copp, Andrew J, Stanier, Philip, Bassuk, Alexander G, Greene, Nicholas DE

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Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice 由 De Castro, Sandra C P, Gustavsson, Peter, Marshall, Abigail R, Gordon, William M, Galea, Gabriel, Nikolopoulou, Evanthia, Savery, Dawn, Rolo, Ana, Stanier, Philip, Andersen, Bogi, Copp, Andrew J, Greene, Nicholas D E

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Whole genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of microhomology in... 由 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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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans 由 Narisawa, Ayumi, Komatsuzaki, Shoko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Fujiwara, Kazuko, Tanemura, Mitsuyo, Hata, Akira, Suzuki, Yoichi, Relton, Caroline L., Grinham, James, Leung, Kit-Yi, Partridge, Darren, Robinson, Alexis, Stone, Victoria, Gustavsson, Peter, Stanier, Philip, Copp, Andrew J., Greene, Nicholas D.E., Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo

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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy 由 Buena-Atienza, Elena, Rüther, Klaus, Baumann, Britta, Bergholz, Richard, Birch, David, De Baere, Elfride, Dollfus, Helene, Greally, Marie T., Gustavsson, Peter, Hamel, Christian P., Heckenlively, John R., Leroy, Bart P., Plomp, Astrid S., Pott, Jan Willem R., Rose, Katherine, Rosenberg, Thomas, Stark, Zornitza, Verheij, Joke B. G. M., Weleber, Richard, Zobor, Ditta, Weisschuh, Nicole, Kohl, Susanne, Wissinger, Bernd

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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... 由 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 由 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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