日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing

在印度尼西亚一家三级转诊医院中,通过全外显子组测序鉴定儿童神经遗传疾病的遗传基础:

Triono, Agung; Iskandar, Kristy; Hadiyanto, Marissa Leviani; Nugrahanto, Andika Priamas; Diantika, Kania; Wijayanti, Veronica Wulan; Herini, Elisabeth Siti

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report

结节性硬化症相关神经精神障碍(TAND)表型患者TSC2基因新生突变:病例报告

Triono, Agung; Herini, Elisabeth S; Iskandar, Kristy; Hadiyanto, Marissa L; Diantika, Kania; Wijayanti, Veronica W; Gunadi