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K

Kristina Mikhalchuk

research centre for medical genetics
H指数:3
被引数:28

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Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches

罕见SMA患者：临床特征、遗传谱和治疗方法的全面分析

International Journal of Molecular Sciences
IF4.9
2026-05-130
OAAI
Kristina Mikhalchuk; Svetlana Artemieva; Viktoria Zabnenkova; Maria Akhkiamova; Elena Dadali; Galina Rudenskaya; Peter Sparber; Olga Rybakova; Yulia Papina; Anastasiya Monakhova; Irina Shulyakova; Dmitriy Saiko; Svetlana Zhiteneva; Alexander Polyakov; Olga Shchagina
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1

诊断困境：囊性纤维化与确定性Kabuki综合征1型的并发诊断

International Journal of Molecular Sciences
IF4.9
2026-03-090
OAAI
Tatyana Vasilyeva; Nataliya Kashirskaya; Anna Mukhina; Anastasia Bobreshova; Yuliya Melyanovskaya; Olga Karpova; Dmitriy Kazakov; Andrey Marakhonov; Dmitry Pershin; Elena Kondratyeva; Kristina Mikhalchuk; Ekaterina Selina; Farida Sibgatullina; Almazia Shakirova; Zulfia Vafina; Anna Shcherbina; Rena Zinchenko
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus

罕见5q脊髓性肌萎缩症：SMN基因座内含子微变异的分子遗传学及临床分析

CLINICAL GENETICS
IF2.3
2025-02-040
PRE
Mikhalchuk, Kristina; Zabnenkova, Viktoria; Braslavskaya, Svetlana; Chukhrova, Alena; Ryadninskaya, Nina; Dadaly, Elena; Rudenskaya, Galina; Sharkova, Inna; Anisimova, Inga; Bessonova, Ludmila; Mishina, Irina; Repina, Svetlana; Petukhova, Marina; Sparber, Peter; Kuchina, Anna; Saushev, Dmitry; Artemieva, Svetlana; Kurbatov, Sergey; Kanivets, Ilya; Zarubina, Vera; Barykova, Daria; Lisakonova, Ekaterina; Polyakov, Alexander; Shchagina, Olga
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
PEDIATRIC NEUROLOGY
IF2.1
2024-07-012
PRE
EfiMova, Irina Yu.; Zinchenko, Rena A.; Marakhonov, Andrey, V; Balinova, Natalya, V; Mikhalchuk, Kristina A.; Shchagina, Olga A.; Polyakov, Alexander, V; Mudaeva, Dzhaina A.; Saydaeva, Djamila H.; Matulevich, Svetlana A.; Parshintseva, Polina D.; Belyashova, Elena Yu.; Yakubovskiy, Grigoriy I.; Tebieva, Inna S.; Gabisova, Yulia, V; Irinina, Nataliya A.; Jamschikova, Anna, V; Nurgalieva, Liya R.; Saifullina, Elena, V; Nevmerzhitskaya, Kristina S.; Belyaeva, Tatiana I.; Romanova, Olga S.; Voronin, Sergey V.; Kutsev, Sergey I.

研究方向

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A
A. V. Polyakov
H 指数:18论文数:204被引数:4,107
O
Olga Shchagina
H 指数:11论文数:165被引数:406
P
Peter Sparber
H 指数:9论文数:41被引数:279
В
В. В. Забненкова
H 指数:6论文数:47被引数:147
A
Andrey V. Marakhonov
H 指数:17论文数:187被引数:951
А
А. Л. Чухрова
H 指数:7论文数:46被引数:137
N
Nina Ryadninskaya
H 指数:2论文数:10被引数:23
С
С. В. Курбатов
H 指数:17论文数:219被引数:1,174
Е
Е. Л. Дадали
H 指数:16论文数:230被引数:3,583
N
N. Kashirskaya
H 指数:21论文数:225被引数:3,133