Bayanova相关文献与解析，生知库 | 链接生命科学的每一步

Correction: Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability

更正：对哈萨克斯坦早发性癫痫患儿进行全基因组测序，揭示了新的基因变异和表型变异

doi:10.1007/s12035-024-04544-3

Bayanova, Mirgul; Bolatov, Aidos K; Bazenova, Assiya; Nazarova, Lyazzat; Nauryzbayeva, Alissa; Tanko, Naanlep Matthew; Rakhimova, Saule; Satvaldina, Nazerke; Samatkyzy, Diana; Kozhamkulov, Ulan; Kairov, Ulykbek; Akilzhanova, Ainur; Sarbassov, Dos

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population

哈萨克斯坦儿童人群成骨不全的遗传图谱和表型谱

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-95877-z

Bayanova, Mirgul; Abilova, Aigerim; Rakhimzhanova, Marzhan; Bazenova, Assiya; Nazarova, Lyazzat; Malik, Dias; Tanko, Naanlep Matthew; Altaeva, Nursulu; Bolatov, Aidos

发表日期：2025

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Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report

通过全基因组测序在患有癫痫症的婴儿中发现CHRNA2基因的新型无义突变：病例报告

期刊:Heliyon

影响因子:3.6

doi:10.1016/j.heliyon.2024.e41484

Makhmetov, Sultan; Temirkhanova, Kamila; Rakhimova, Saule; Satvaldina, Nazerke; Kalendar, Ruslan; Kozhamkulov, Ulan; Bolatov, Aidos; Bayanova, Mirgul; Bazenova, Assiya; Nazarova, Lyazzat; Akilzhanova, Ainur; Kairov, Ulykbek

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk

肾移植受者和供者的全外显子组测序：对终末期肾病和移植后遗传风险的深入了解

期刊:BMC Nephrology

影响因子:2.4

doi:10.1186/s12882-025-04553-x

Bayanova, Mirgul; Bolatov, Aidos; Malik, Dias; Sapargaliyeva, Malika; Abdikadirova, Aizhan; Zhenissova, Aida; Nazarova, Lyazzat; Assykbayev, Mels; Abdugafarov, Saitkarim; Rakhimzhanova, Saltanat; Suleimenova, Deniza; Kuttymuratov, Gani; Ainakulov, Ardak; Sailybayeva, Aliya; Altynova, Sholpan; Pya, Yuriy

发表日期：2025

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Whole-Exome Sequencing Followed by dPCR-Based Personalized Genetic Approach in Solid Organ Transplantation: A Study Protocol and Preliminary Results

全外显子组测序结合基于数字PCR的个体化基因检测方法在实体器官移植中的应用：一项研究方案及初步结果

期刊:Methods and Protocols

影响因子:2

doi:10.3390/mps8020027

Bayanova, Mirgul; Bolatov, Aidos; Malik, Dias; Zhenissova, Aida; Abdikadirova, Aizhan; Sapargaliyeva, Malika; Nazarova, Lyazzat; Myrzakhmetova, Gulzhan; Novikova, Svetlana; Turganbekova, Aida; Pya, Yuriy

发表日期：2025

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Vaping Possible Negative Effects on Lungs: State-of-the-Art From Lung Capacity Alteration to Cancer

电子烟可能对肺部造成负面影响：从肺活量改变到癌症的最新研究进展

期刊:Cureus Journal of Medical Science

影响因子:1.3

doi:10.7759/cureus.72109

Rahim, Fakher; Toguzbaeva, Karlygash; Sokolov, Dmitriy; Dzhusupov, Kenesh O; Zhumagaliuly, Abzal; Tekmanova, Ainur; Kussaiynova, Elmira; Katayeva, Aiya; Orazbaeva, Sholpan; Bayanova, Aidana; Olzhas, Mariyam; Zhumataeva, Alina; Moldabekova, Sabina

Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability

对哈萨克斯坦早发性癫痫患儿进行全基因组测序，揭示了新的基因变异和表型变异

期刊:Molecular Neurobiology

影响因子:4.3

doi:10.1007/s12035-023-03346-3

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

哈萨克斯坦的杜氏肌营养不良症：从诊断到治疗的历程、偏见与成就

期刊:Journal of Neuromuscular Diseases

影响因子:3.4

doi:10.3233/JND-221559

Jaxybayeva, Altynshash; Chunkayeva, Dana; Myrzaliyeva, Bakhytkul; Ayaganov, Dinmukhamed; Lepessova, Marzhan; Bulekbayeva, Sholpan; Idrissova, Zhannat; Mukhambetova, Gulnar; Bayanova, Mirgul; Malfatti, Edoardo; Urtizberea, Andoni

发表日期：2023

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Potential impact of extra education on the development of executive functions within a year in preschool children: an exploratory research

额外教育对学龄前儿童一年内执行功能发展的潜在影响：一项探索性研究

期刊:Frontiers in Psychology

影响因子:2.9

doi:10.3389/fpsyg.2023.1193472

Dolgikh, Alexandra; Bayanova, Larisa; Chichinina, Elena

发表日期：2023

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Biomarkers of Treatment Response in Paediatric Medulloblastoma

儿童髓母细胞瘤治疗反应的生物标志物

Correction: Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability

更正：对哈萨克斯坦早发性癫痫患儿进行全基因组测序，揭示了新的基因变异和表型变异

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population

哈萨克斯坦儿童人群成骨不全的遗传图谱和表型谱

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report

通过全基因组测序在患有癫痫症的婴儿中发现CHRNA2基因的新型无义突变：病例报告

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk

肾移植受者和供者的全外显子组测序：对终末期肾病和移植后遗传风险的深入了解

Whole-Exome Sequencing Followed by dPCR-Based Personalized Genetic Approach in Solid Organ Transplantation: A Study Protocol and Preliminary Results

全外显子组测序结合基于数字PCR的个体化基因检测方法在实体器官移植中的应用：一项研究方案及初步结果

Vaping Possible Negative Effects on Lungs: State-of-the-Art From Lung Capacity Alteration to Cancer

电子烟可能对肺部造成负面影响：从肺活量改变到癌症的最新研究进展

Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability

对哈萨克斯坦早发性癫痫患儿进行全基因组测序，揭示了新的基因变异和表型变异

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements

哈萨克斯坦的杜氏肌营养不良症：从诊断到治疗的历程、偏见与成就

Potential impact of extra education on the development of executive functions within a year in preschool children: an exploratory research

额外教育对学龄前儿童一年内执行功能发展的潜在影响：一项探索性研究