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1 Ergebnisse
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Novel biallelic splice-site BBS1 variants in Bardet–Biedle ..:
Katagiri, Satoshi
;
Hosono, Katsuhiro
;
Hayashi, Takaaki
...
Documenta Ophthalmologica. 141 (2020) 1 - p. 77-88 , 2020
Link:
https://doi.org/10.1007/s10633-020-09752-5
RT Journal T1
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s10633-020-09752-5&Exemplar=1&LAN=DE A1 Katagiri, Satoshi A1 Hosono, Katsuhiro A1 Hayashi, Takaaki A1 Murai, Noriyuki A1 Wake, Eiichi A1 Miyata, Ichiro A1 Mizobuchi, Kei A1 Kurata, Kentaro A1 Matsuura, Tomokazu A1 Nakano, Tadashi A1 Hotta, Yoshihiro PB Springer Science and Business Media LLC YR 2020 SN 0012-4486 SN 1573-2622 JF Documenta Ophthalmologica VO 141 IS 1 SP 77 OP 88 LK http://dx.doi.org/https://doi.org/10.1007/s10633-020-09752-5 DO https://doi.org/10.1007/s10633-020-09752-5 SF ELIB - SuUB Bremen
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