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A case of early‐onset epileptic encephalopathy with a homoz..:
Nakashima, Mitsuko
;
Negishi, Yutaka
;
Hori, Ikumi
...
American Journal of Medical Genetics Part A. 179 (2019) 4 - p. 645-649 , 2019
Link:
https://doi.org/10.1002/ajmg.a.61056
RT Journal T1 <Title>A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61056&Exemplar=1&LAN=DE A1 Nakashima, Mitsuko A1 Negishi, Yutaka A1 Hori, Ikumi A1 Hattori, Ayako A1 Saitoh, Shinji A1 Saitsu, Hirotomo PB Wiley YR 2019 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 179 IS 4 SP 645 OP 649 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61056 DO https://doi.org/10.1002/ajmg.a.61056 SF ELIB - SuUB Bremen
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