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1 Ergebnisse
1
Whole-exome sequencing is a powerful approach for establish..:
Rump, Patrick
;
Jazayeri, Omid
;
van Dijk-Bos, Krista
...
https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6. , 2016
Link:
https://hdl.handle.net/11370/18f19b8c-aa4f-405c-8d23-c..
RT Journal T1
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_18f19b8c-aa4f-405c-8d23-c875792263e6&Exemplar=1&LAN=DE A1 Rump, Patrick A1 Jazayeri, Omid A1 van Dijk-Bos, Krista A1 Johansson, Leonnart F A1 van Essen, Anthonie J A1 Verheij, Johanna B G M A1 Veenstra-Knol, Hermine E A1 Redeker, Egbert J W A1 Mannens, Marcel M A M A1 Swertz, Morris A A1 Alizadeh, Behrooz Z A1 van Ravenswaaij-Arts, Conny M A A1 Sinke, Richard J A1 Sikkema-Raddatz, Birgit YR 2016 K1 Autosomal recessive inheritance K1 ASPM K1 BRCA2 K1 CASK K1 DYRK1A K1 ERCC8 K1 KIF11 K1 Microcephaly K1 RAB3GAP1 RNASEH2B K1 RTTN K1 Whole-exome sequencing K1 MENDELIAN DISORDERS K1 MUTATIONS K1 GENES K1 POPULATION K1 PHENOTYPE K1 UPDATE K1 MAP JF https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6 LK http://dx.doi.org/https://hdl.handle.net/11370/18f19b8c-aa4f-405c-8d23-c875792263e6 DO https://hdl.handle.net/11370/18f19b8c-aa4f-405c-8d23-c875792263e6 SF ELIB - SuUB Bremen
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