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

AgRP1 modulates breeding season-dependent feeding behavior in female medaka

AgRP1 调控雌性青鳉鱼繁殖季节相关的摄食行为。

Tagui, Yurika; Takeda, Shingo; Waida, Hiroyo; Kitahara, Shoichi; Kimura, Tomoki; Kanda, Shinji; Oka, Yoshitaka; Hayashi, Yu; Umatani, Chie

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients

俄罗斯患者鲁宾斯坦-泰比综合征的分子遗传学分析

Ismagilova, Olga R; Adyan, Tagui A; Beskorovainaya, Tatiana S; Polyakov, Alexander V

Bone Turnover Markers Levels in a Cohort of Egyptian Children with Sickle Cell Disease

埃及镰状细胞病患儿队列的骨转换标志物水平

El-Tagui, Mona; Tawfik, Sameh; Al-Hussain AbdulGawad, Eman; Gad, Alaa; El Sherbiny, Mohamed; Saad Nassim, Mariam

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

基于俄罗斯联邦囊性纤维化患者登记库的囊性纤维化遗传和分子流行病学研究,旨在为靶向治疗提供指导

Kondratyeva, Elena; Melyanovskaya, Yuliya; Sherman, Victoriya; Voronkova, Anna; Zhekaite, Elena; Krasovsky, Stanislav; Amelina, Elena; Kashirskaya, Nataliya; Shadrina, Vera; Polyakov, Alexander; Adyan, Tagui; Sсhagina, Olga; Starinova, Marina; Enina, Elena; Vasilyev, Andrey; Marakhonov, Andrey; Zinchenko, Rena; Kutsev, Sergey

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome

俄罗斯囊性纤维化和先天性双侧输精管缺如综合征男性患者的CFTR基因致病变异和基因型

Chernykh, Vyacheslav; Krasovsky, Stanislav; Solovova, Olga; Adyan, Tagui; Stepanova, Anna; Marnat, Ekaterina; Shtaut, Maria; Sedova, Anna; Sorokina, Tatyana; Beskorovainaya, Tatyana; Kondratyeva, Elena; Shchagina, Olga; Polyakov, Aleksandr

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

俄罗斯和土耳其囊性纤维化患者人群中E92K CFTR基因变异的临床和功能特征

Kondratyeva, Elena; Melyanovskaya, Yuliya; Bulatenko, Nataliya; Davydenko, Ksenia; Filatova, Alexandra; Efremova, Anna; Skoblov, Mikhail; Bukharova, Tatiana; Sherman, Viktoriya; Voronkova, Anna; Zhekaite, Elena; Krasovskiy, Stanislav; Amelina, Elena; Petrova, Nika; Polyakov, Alexander; Adyan, Tagui; Starinova, Marina; Krasnova, Maria; Vasilyev, Andrey; Makhnach, Oleg; Zinchenko, Rena; Kutsev, Sergey; Gokdemir, Yasemin; Karadag, Bülent; Goldshtein, Dmitry

L138ins Variant of the CFTR Gene in Russian Infertile Men

俄罗斯不育男性中CFTR基因的L138ins变异

Chernykh, Vyacheslav; Sorokina, Tatyana; Sedova, Anna; Shtaut, Maria; Solovova, Olga; Marnat, Ekaterina; Adyan, Tagui; Beskorovaynaya, Tatyana; Stepanova, Anna; Shchagina, Olga; Polyakov, Aleksandr

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

携带复杂等位基因[E217G;G509D]的囊性纤维化患者的临床和遗传特征及CFTR通道的功能评估

Kondratyeva, Elena; Melyanovskaya, Yuliya; Efremova, Anna; Krasnova, Mariya; Mokrousova, Diana; Bulatenko, Nataliya; Petrova, Nika; Polyakov, Alexander; Adyan, Tagui; Kovalskaia, Valeriia; Bukharova, Tatiana; Marakhonov, Andrey; Zinchenko, Rena; Zhekaite, Elena; Buhonin, Artem; Goldshtein, Dmitry

Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

为具有复杂等位基因 [L467F;F508del] 的患者个性化选择 CFTR 调节剂

Elena Kondratyeva, Nataliya Bulatenko, Yuliya Melyanovskaya, Anna Efremova, Elena Zhekaite, Viktoriya Sherman, Anna Voronkova, Irina Asherova, Alexander Polyakov, Tagui Adyan, Valeriia Kovalskaia, Tatiana Bukharova, Dmitry Goldshtein, Sergey Kutsev

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant

基因型包含核苷酸序列 c.3140-16T>A 变体的囊性纤维化患者的健康特征及其变体的功能分析

Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Filatova, Mikhail Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, R