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1 Ergebnisse
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An X‐linked syndrome with severe neurodevelopmental delay, ..:
Tripolszki, Kornelia
;
Sasaki, Erina
;
Hotakainen, Ronja
...
Clinical Genetics. 99 (2020) 2 - p. 303-308 , 2020
Link:
https://doi.org/10.1111/cge.13873
RT Journal T1
An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.13873&Exemplar=1&LAN=DE A1 Tripolszki, Kornelia A1 Sasaki, Erina A1 Hotakainen, Ronja A1 Kassim, Abdul Halim A1 Pereira, Catarina A1 Rolfs, Arndt A1 Bauer, Peter A1 Reardon, William A1 Bertoli‐Avella, Aida M. PB Wiley YR 2020 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 99 IS 2 SP 303 OP 308 LK http://dx.doi.org/https://doi.org/10.1111/cge.13873 DO https://doi.org/10.1111/cge.13873 SF ELIB - SuUB Bremen
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