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1 Ergebnisse
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From cytogenetics to cytogenomics: whole-genome sequencing ..:
Anna Lindstrand
;
Jesper Eisfeldt
;
Maria Pettersson
...
http://link.springer.com/article/10.1186/s13073-019-0675-1. , 2019
Link:
https://doi.org/10.1186/s13073-019-0675-1
RT Journal T1
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:494c641092944226bbd8ae351521590b&Exemplar=1&LAN=DE A1 Anna Lindstrand A1 Jesper Eisfeldt A1 Maria Pettersson A1 Claudia M. B. Carvalho A1 Malin Kvarnung A1 Giedre Grigelioniene A1 Britt-Marie Anderlid A1 Olof Bjerin A1 Peter Gustavsson A1 Anna Hammarsjö A1 Patrik Georgii-Hemming A1 Erik Iwarsson A1 Maria Johansson-Soller A1 Kristina Lagerstedt-Robinson A1 Agne Lieden A1 Måns Magnusson A1 Marcel Martin A1 Helena Malmgren A1 Magnus Nordenskjöld A1 Ameli Norling A1 Ellika Sahlin A1 Henrik Stranneheim A1 Emma Tham A1 Josephine Wincent A1 Sofia Ygberg A1 Anna Wedell A1 Valtteri Wirta A1 Ann Nordgren A1 Johanna Lundin A1 Daniel Nilsson PB BMC YR 2019 K1 Whole-genome sequencing K1 Intellectual disability K1 Monogenic disease K1 Copy number variation K1 Structural variation K1 Single nucleotide variant K1 Medicine K1 R K1 Genetics K1 QH426-470 JF http://link.springer.com/article/10.1186/s13073-019-0675-1 LK http://dx.doi.org/https://doi.org/10.1186/s13073-019-0675-1 DO https://doi.org/10.1186/s13073-019-0675-1 SF ELIB - SuUB Bremen
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