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

Decreased TREC and KREC levels in newborns with trisomy 21

21三体综合征新生儿TREC和KREC水平降低

Marakhonov, Andrey; Mukhina, Anna; Vlasova, Elena; Efimova, Irina; Balinova, Natalya; Rodina, Yulia; Pershin, Dmitry; Markova, Zhanna; Minzhenkova, Marina; Shilova, Nadezhda; Mudaeva, Dzhaina; Saydaeva, Djamila; Irbaieva, Taisiya; Matulevich, Svetlana; Belyashova, Elena; Yakubovskiy, Grigoriy; Tebieva, Inna; Gabisova, Yulia; Ikaev, Murat; Irinina, Nataliya; Nurgalieva, Liya; Saifullina, Elena; Belyaeva, Tatiana; Romanova, Olga; Voronin, Sergey; Zinchenko, Rena; Shcherbina, Anna; Kutsev, Sergey

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

使用 TREC 进行新生儿筛查发现罕见 TP63 相关淋巴细胞减少症病例

Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva,

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation

俄罗斯联邦不同地区遗传性酪氨酸血症1型患者的独特突变谱

Baydakova, G V; Ivanova, T A; Mikhaylova, S V; Saydaeva, D Kh; Dzhudinova, L L; Akhlakova, A I; Gamzatova, A I; Bychkov, I O; Zakharova, E Yu

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

车臣囊性纤维化患者CFTR基因突变谱:北高加索地区c.1545_1546delTA(p.Tyr515X;1677delTA)和c.274G>A(p.Glu92Lys,E92K)突变频率较高

Petrova, N V; Kashirskaya, N Y; Saydaeva, D K; Polyakov, A V; Adyan, T A; Simonova, O I; Gorinova, Y V; Kondratyeva, E I; Sherman, V D; Novoselova, O G; Vasilyeva, T A; Marakhonov, A V; Macek, M Jr; Ginter, E K; Zinchenko, R A