… Missense mutations affecting conserved amino acids are seen in NG 190 (c) and NG 537
(f). In NG 339 (e), a 17-bp deletion leads to a premature stop codon. g, The locations of …

Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion
of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate …

… (C) Stick figure of CLP1 protein and location of the p.R140H mutation near the ATP-binding …
C, hybridized in the same solution at 50 C with 100 pmol 50-32P labeled Chr14.tRNA19-…

Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is
one of the most abundant proteins in the brain. We describe three siblings from a …

Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in
ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

… not only the C 2 S but also the C 3 S phase was observed despite a long curing period.
The … Çağlar Yalçınkaya would like to acknowledge the postdoctoral research fellowship …

… The heating temperature for making calcined clay (700–850 C) is much lower than for the
clinker. A relatively lower amount of CO 2 is emitted during the producing process of calcined …

… In 7 d, the compressive strength of C and C5 samples exceeds 100 MPa, and the C5 sample
has a further increase of 1.51% relative to the C sample. Meanwhile, with the curing age …

OBJECTIVE: Children with epilepsy have high rates of depression and anxiety. The majority
of studies concentrate on the children with epilepsy, but the emotional impact of epilepsy on …