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1 Ergebnisse
1
A homozygous loss-of-function CAMK2A mutation causes growth..:
Poh Hui Chia
;
Franklin Lei Zhong
;
Shinsuke Niwa
...
https://elifesciences.org/articles/32451. , 2018
Link:
https://doi.org/10.7554/eLife.32451
RT Journal T1
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:db6a2998912a4cdc9e37796ad1f08f29&Exemplar=1&LAN=DE A1 Poh Hui Chia A1 Franklin Lei Zhong A1 Shinsuke Niwa A1 Carine Bonnard A1 Kagistia Hana Utami A1 Ruizhu Zeng A1 Hane Lee A1 Ascia Eskin A1 Stanley F Nelson A1 William H Xie A1 Samah Al-Tawalbeh A1 Mohammad El-Khateeb A1 Mohammad Shboul A1 Mahmoud A Pouladi A1 Mohammed Al-Raqad A1 Bruno Reversade PB eLife Sciences Publications Ltd YR 2018 K1 neurological disease K1 Mendelian disorder K1 oligomerization K1 intellectual disability K1 seizures K1 CAMK2 K1 Medicine K1 R K1 Science K1 Q K1 Biology (General) K1 QH301-705.5 JF https://elifesciences.org/articles/32451 LK http://dx.doi.org/https://doi.org/10.7554/eLife.32451 DO https://doi.org/10.7554/eLife.32451 SF ELIB - SuUB Bremen
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