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

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1

诊断难题:囊性纤维化与确诊卡布奇综合征1型同时诊断

Vasilyeva, Tatyana; Kashirskaya, Nataliya; Mukhina, Anna; Bobreshova, Anastasia; Melyanovskaya, Yuliya; Karpova, Olga; Kazakov, Dmitriy; Marakhonov, Andrey; Pershin, Dmitry; Kondratyeva, Elena; Mikhalchuk, Kristina; Selina, Ekaterina; Sibgatullina, Farida; Shakirova, Almazia; Vafina, Zulfia; Shcherbina, Anna; Zinchenko, Rena

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

探讨SMN1基因重复和缺失在俄罗斯的流行情况及其对携带者筛查的影响

Mikhalchuk, Kristina; Polyakov, Aleksander; Zabnenkova, Viktoria V; Ismagilova, Olga; Shchagina, Olga

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation

俄罗斯联邦新生儿筛查项目实施后,5q脊髓性肌萎缩症患者的基因型结构发生改变

Akhkiamova, Maria A; Marakhonov, Andrey V; Zabnenkova, Victoria V; Mikhalchuk, Kristina A; Voronin, Sergei V; Kutsev, Sergey I; Musatova, Victoria V; Kekeeva, Tatyana N; Ryadninskaya, Nina V; Chukhrova, Alena L; Braslavskaya, Svetlana I; Chausova, Polina A; Beskorovainaya, Tatyana S; Polyakov, Aleksander V; Savostyanov, Kirill V; Zhanin, Ilya S; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Shchagina, Olga A

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

俄罗斯联邦新生儿5q脊髓性肌萎缩症筛查试点项目

Mikhalchuk, Kristina; Shchagina, Olga; Chukhrova, Alena; Zabnenkova, Viktoria; Chausova, Polina; Ryadninskaya, Nina; Vlodavets, Dmitry; Kutsev, Sergei I; Polyakov, Alexander