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1 Ergebnisse
1
Whole genome sequencing, focused assays and functional stud..:
Nash, B.M
;
Ma, A
;
Ho, G
...
http://purl.org/au-research/grants/nhmrc/1116360. , 2022
Link:
https://hdl.handle.net/2440/135019
RT Journal T1 <Title>Whole genome sequencing, focused assays and functional studies increasing understanding in cryptic inherited retinal dystrophies</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftunivadelaidedl:oai:digital.library.adelaide.edu.au:2440_135019&Exemplar=1&LAN=DE A1 Nash, B.M A1 Ma, A A1 Ho, G A1 Farnsworth, E A1 Minoche, A.E A1 Cowley, M.J A1 Barnett, C A1 Smith, J.M A1 Loi, T.H A1 Wong, K A1 Heaps, L.S A1 Wright, D A1 Dinger, M.E A1 Bennetts, B A1 Grigg, J.R A1 Jamieson, R.V PB MDPI AG YR 2022 K1 gene panels K1 inherited retinal dystrophy K1 RNA analysis K1 whole genome sequencing K1 Humans K1 Calmodulin-Binding Proteins K1 ATP-Binding Cassette Transporters K1 Eye Proteins K1 RNA Splice Sites K1 Pedigree K1 Mutation K1 Retinal Dystrophies K1 Exome K1 Whole Exome Sequencing JF http://purl.org/au-research/grants/nhmrc/1116360 LK http://dx.doi.org/https://hdl.handle.net/2440/135019 DO https://hdl.handle.net/2440/135019 SF ELIB - SuUB Bremen
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