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1 Ergebnisse
1
Targeted NGS gene panel identifies mutations in RSPH1 causi..:
Onoufriadis, A
;
Shoemark, A
;
Schmidts, M
...
https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._Mol._Genet.-2014-Onoufriadis-3362-74.pdf. , 2014
Link:
https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._M..
RT Journal T1 <Title>Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:1421714&Exemplar=1&LAN=DE A1 Onoufriadis, A A1 Shoemark, A A1 Schmidts, M A1 Patel, M A1 Jimenez, G A1 Liu, H A1 Thomas, B A1 Dixon, M A1 Hirst, RA A1 Rutman, A A1 Burgoyne, T A1 Williams, C A1 Scully, J A1 Bolard, F A1 Lafitte, JJ A1 Beales, PL A1 Hogg, C A1 Yang, P A1 Chung, EM A1 Emes, RD A1 O'Callaghan, C A1 UK10K A1 Bouvagnet, P A1 Mitchison, HM YR 2014 JF https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._Mol._Genet.-2014-Onoufriadis-3362-74.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._Mol._Genet.-2014-Onoufriadis-3362-74.pdf DO https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._Mol._Genet.-2014-Onoufriadis-3362-74.pdf SF ELIB - SuUB Bremen
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