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المؤلفون: 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
المصدر: Genome Medicine. 11(1)
مصطلحات موضوعية: Whole-genome sequencing, Intellectual disability, Monogenic disease, Copy number variation, Structural variation, Single nucleotide variant, Uniparental disomy, Repeat expansion
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-176549Test
https://doi.org/10.1186/s13073-019-0675-1Test -
2دورية أكاديمية
المؤلفون: 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
المصدر: Genome Medicine; 3/17/2021, Vol. 13 Issue 1, p1-15, 15p
مصطلحات موضوعية: MICROSATELLITE repeats, RARE diseases, EXOMES, INFORMATION sharing, DECISION support systems, SHORT tandem repeat analysis, SKELETAL dysplasia
مصطلحات جغرافية: STOCKHOLM (Sweden)