Associated Papers
Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.
Xue H et al.
Scientific Reports, 2025
QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature.
Ahmad R et al.
Molecular Biology Reports, 2025
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM et al.
Neurology. Genetics, 2019
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The crystal structure of human GlnRS provides basis for the development of neurological disorders.
Ognjenović J et al.
Nucleic Acids Research, 2016
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
Kodera H et al.
Journal of Human Genetics, 2015
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