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1 Ergebnisse
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Biallelic sequence and structural variants in RAX2 are a no..:
Van de Sompele, Stijn
;
Smith, Claire
;
Karali, Marianthi
...
Genetics in Medicine. 21 (2019) 6 - p. 1319-1329 , 2019
Link:
https://doi.org/10.1038/s41436-018-0345-5
RT Journal T1
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-018-0345-5&Exemplar=1&LAN=DE A1 Van de Sompele, Stijn A1 Smith, Claire A1 Karali, Marianthi A1 Corton, Marta A1 Van Schil, Kristof A1 Peelman, Frank A1 Cherry, Timothy A1 Rosseel, Toon A1 Verdin, Hannah A1 Derolez, Julien A1 Van Laethem, Thalia A1 Khan, Kamron N. A1 McKibbin, Martin A1 Toomes, Carmel A1 Ali, Manir A1 Torella, Annalaura A1 Testa, Francesco A1 Jimenez, Belen A1 Simonelli, Francesca A1 De Zaeytijd, Julie A1 Van den Ende, Jenneke A1 Leroy, Bart P. A1 Coppieters, Frauke A1 Ayuso, Carmen A1 Inglehearn, Chris F. A1 Banfi, Sandro A1 De Baere, Elfride PB Elsevier BV YR 2019 SN 1098-3600 JF Genetics in Medicine VO 21 IS 6 SP 1319 OP 1329 LK http://dx.doi.org/https://doi.org/10.1038/s41436-018-0345-5 DO https://doi.org/10.1038/s41436-018-0345-5 SF ELIB - SuUB Bremen
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