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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Neurol Sci. 2023 Jul;44(7):2527-2540. doi: 10.1007/s10072-023-06699-8. Epub 2023 Feb 28.
Neurol Sci. 2023.
PMID: 36849695
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Khalilov D, Haryanyan G, Salman B, Yucesan E, Ugur Iseri S, Bebek N.
Khalilov D, et al.
Neurocase. 2022 Dec;28(6):488-492. doi: 10.1080/13554794.2023.2176779. Epub 2023 Feb 14.
Neurocase. 2022.
PMID: 36787709
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[Study of the alkaloid makeup of the groundsel (Senecio lampsanoides) from the flora of Azerbaijan].
Khalilov DS, Damirov IA.
Khalilov DS, et al.
Farmatsiia. 1974 Sep-Oct;23(5):25-6.
Farmatsiia. 1974.
PMID: 4282598
Russian.
No abstract available.
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