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1 Ergebnisse
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Biallelic CDK9 variants as a cause of a new multiple-malfor..:
Nishina, Sachiko
;
Hosono, Katsuhiro
;
Ishitani, Shizuka
...
Journal of Human Genetics. 66 (2021) 10 - p. 1021-1027 , 2021
Link:
https://doi.org/10.1038/s10038-021-00909-x
RT Journal T1
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-021-00909-x&Exemplar=1&LAN=DE A1 Nishina, Sachiko A1 Hosono, Katsuhiro A1 Ishitani, Shizuka A1 Kosaki, Kenjiro A1 Yokoi, Tadashi A1 Yoshida, Tomoyo A1 Tomita, Kaoru A1 Fukami, Maki A1 Saitsu, Hirotomo A1 Ogata, Tsutomu A1 Ishitani, Tohru A1 Hotta, Yoshihiro A1 Azuma, Noriyuki PB Springer Science and Business Media LLC YR 2021 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics VO 66 IS 10 SP 1021 OP 1027 LK http://dx.doi.org/https://doi.org/10.1038/s10038-021-00909-x DO https://doi.org/10.1038/s10038-021-00909-x SF ELIB - SuUB Bremen
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