المؤلفون: Bilgrav Saether, Kristine, Nilsson, Daniel, Thonberg, Håkan, Tham, Emma, Ameur, Adam, Eisfeldt, Jesper, Lindstrand, Anna

المصدر: PLoS ONE; 7/28/2023, Vol. 18 Issue 7, p1-15, 15p

مصطلحات موضوعية: RARE diseases, GENETIC code, GENETIC disorders, GENOMES

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)

المؤلفون: Magnusson, Måns^1,2,3 (AUTHOR) mans.magnusson@scilifelab.se, Eisfeldt, Jesper^2,4,5 (AUTHOR), Nilsson, Daniel^2,4 (AUTHOR), Rosenbaum, Adam¹ (AUTHOR), Wirta, Valtteri^1,6 (AUTHOR), Lindstrand, Anna^2,4,5 (AUTHOR), Wedell, Anna^2,3 (AUTHOR), Stranneheim, Henrik^2,3 (AUTHOR)

المصدر: BMC Bioinformatics. 7/1/2020, Vol. 21 Issue 1, p1-10. 10p. 4 Graphs.

مصطلحات موضوعية: *DATABASES, *NUCLEOTIDE sequencing, *INFORMATION resources, *RARE diseases, *FORENSIC genetics