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Kirill V. Savostyanov

National Medical Research Center of Children's Health
H指数:16
被引数:883

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Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test

低磷酸酯酶症:一项全国性选择性筛查计划的结果,该计划使用NGS技术作为第一级检测

2026-08-130
OA
Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation

基于2023年至2024年俄罗斯联邦扩展新生儿筛查数据的超高苯丙氨酸血症的分子遗传学和生物化学特征

2026-06-230
OA
Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

俄罗斯扩大新生儿筛查两年:通过串联质谱进行高通量遗传代谢病检测,并由下一代测序确认

2026-03-030
OAAI
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia

全国新生儿筛查严重形式的T和b细胞免疫缺陷的第一个2年经验: 在俄罗斯使用TREC和KREC分析了230万名新生儿

2026-02-060
OAAI
Pompe disease: a country-wide molecular screening in a cohort of 15; 068 study participants
2026-01-300
OAAI
Extracellular Vesicles from iPSC-Derived Glial Progenitor Cells Prevent Glutamate-Induced Excitotoxicity by Stabilising Calcium Oscillations and Mitochondrial Depolarisation

iPSC来源的胶质祖细胞来源的外泌体通过稳定钙振荡和线粒体去极化来预防谷氨酸诱导的兴奋性毒性

2025-12-030
OAAI
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study
2023-11-153
OAAI
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2
2023-09-014
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