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A homozygous loss-of-function camk2a mutation causes growth..:

Chia, P.H ; Zhong, F.L ; Niwa, S...
Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B (2018). A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability. eLife 7 : e32451. ScholarBank@NUS Repository. https://doi.org/10.7554/eLife.32451. , 2018

Link: https://scholarbank.nus.edu.sg/handle/10635/177855

RT Journal
T1 <Title>A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftnunivsingapore:oai:scholarbank.nus.edu.sg:10635_177855&Exemplar=1&LAN=DE
				
A1 Chia, P.H
A1 Zhong, F.L
A1 Niwa, S
A1 Bonnard, C
A1 Utami, K.H
A1 Zeng, R
A1 Lee, H
A1 Eskin, A
A1 Nelson, S.F
A1 Xie, W.H
A1 Al-Tawalbeh, S
A1 El-Khateeb, M
A1 Shboul, M
A1 Pouladi, M.A
A1 Al-Raqad, M
A1 Reversade, B
YR 2018
K1 calcium calmodulin dependent protein kinase II
K1 histone
K1 protein
K1 protein unc 43
K1 tyrosine
K1 unclassified drug
K1 CAMK2A protein
K1 human
K1 animal experiment
K1 animal model
K1 Article
K1 Caenorhabditis elegans
K1 case report
K1 chromosome 5q
K1 clinical article
K1 consanguineous marriage
K1 controlled study
K1 convulsion
K1 developmental delay
K1 firing rate
K1 germline mutation
K1 growth disorder
K1 homozygote
K1 human cell
K1 induced pluripotent stem cell
K1 intellectual impairment
K1 loss of function mutation
K1 missense mutation
K1 myoclonus seizure
K1 nonhuman
K1 protein function
K1 protein localization
K1 seizure
K1 synapse
K1 whole exome sequencing
K1 chromosome 5
K1 consanguinity
K1 developmental disorder
K1 DNA sequence
K1 family health
K1 genetic linkage
K1 genetics
K1 Jordan
K1 Calcium-Calmodulin-Dependent Protein Kinase Type 2
K1 Chromosomes
JF Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B (2018). A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability. eLife 7 : e32451. ScholarBank@NUS Repository. https://doi.org/10.7554/eLife.32451
LK http://dx.doi.org/https://scholarbank.nus.edu.sg/handle/10635/177855
DO https://scholarbank.nus.edu.sg/handle/10635/177855
SF ELIB - SuUB Bremen

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