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

Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme

乌克兰新生儿脊髓性肌萎缩症筛查:从试点项目到国家计划

Olkhovych, Nataliia; Samonenko, Nataliia; Shkliarska, Tetiana; Hill, Serena; Grechanina, Olena; Veropotvelyan, Mykola; Makukh, Halyna; Barvinska, Oksana; Mytsyk, Nataliia; Dangouloff, Tamara; Ivanova, Tetiana; Servais, Laurent; Gorovenko, Nataliia

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025

乌克兰新生儿重症联合免疫缺陷病和严重T细胞及B细胞淋巴细胞减少症筛查:2022-2025年结果的首次分析

Boyarchuk, Oksana; Makukh, Halyna; Volokha, Alla; Bondarenko, Anastasiia; Mytsyk, Nataliia; Barvinska, Oksana; Shymanska, Ivanna; Pohuliai, Yuliia; Veropotvelyan, Mykola; Haviley, Anastasia; Hurina, Marharyta; Romanyshyn, Yaryna; Trophymova, Maryna; Hrabovska, Iryna; Malko, Oksana; Tsanko, Tetiana; Tykholaz, Oksana; Lysytsia, Oleksandr; Samonenko, Nataliia; Olkhovych, Nataliia

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency

新生儿筛查在战争之外的成功:嘌呤核苷磷酸化酶(PNP)缺乏症的国际合作案例

Bettiol, Alessandra; Damiano, Roberta; Mytsyk, Nataliia; Samonenko, Nataliia; Cericola, Gabriella; Speckmann, Carsten; Olkhovich, Nataliia; Guerrini, Renzo; la Marca, Giancarlo

Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine

戈谢病I型肝脏受累情况:一项来自乌克兰的回顾性单中心研究

Samonenko, Nataliia; Olkhovych, Nataliia; Okhotnikova, Olena; Gorovenko, Nataliia

The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine

神经元蜡样脂褐质沉积症2型相关变异:乌克兰TPP1基因改变及基因型-表型相关性分析

Olkhovych, Nataliia; Pichkur, Nataliia; Mytsyk, Nataliia; Tonin, Rodolfo; Kormoz, Svitlana; Hregul, Iryna; Samonenko, Nataliia; Shklyarskaya, Tetiana; Olkhovych, Volodymyr; Buryak, Olexandr; Morrone, Amelia; Gorovenko, Nataliia