INVESTIGATION OF MOLECULAR GENETIC CAUSES OF EPILEPTIC ENCEPHALOPATHIES, NEURODEGENERATIVE DISEASES AND COMPLEX NEUROLOGICAL PHENOTYPES IN CHILDREN IN THE TURKESTAN REGION
... hard-to-diagnose neurological disorders. The diagnostic approach included clinical-neurological examination, deep phenotyping (precise and comprehensive analysis of phenotypic abnormalities) using HPO and Phenomizer, and exome sequencing to identify single nucleotide variants (SNVs) and copy number variations (CNVs). A frequency analysis was performed, calculating descriptive statistics for discrete data (mean values – arithmetic mean, relative values – intensive indicator) using IBM SPSS Statistics ...
Изменен: 30.12.2024Путь: Главная / Home / Publications
Результаты поиска 1 - 1 из 1
Начало | Пред. | 1 | След. | Конец
Отсортировано по релевантности | Сортировать по дате