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

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome

伊朗患者体内发现的新型纯合CUL7变异体扩展了3M综合征的遗传谱

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.72218
Arefzadeh, Maryam; Rabbani, Bahareh; Abdolahpour, Saeideh; Emami, Farnoosh; Abbasi, Farzaneh; Masoumi, Tannaz; Mirab Samiee, Siamak; Rabbani, Ali; Mahdieh, Nejat
发表日期：2026
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An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl

CDKN1C基因内含子变异导致一名伊朗女孩患上IMAGe综合征

期刊:Molecular Genetics & Genomic Medicine
影响因子:
doi:10.1002/mgg3.70154
Dalili, Setila; Hoseini Nouri, Seyyedeh Azade; Sharifi, Ameneh; Bayat, Reza; Talebi, Saeid; Savad, Shahram; Medghalchi, Nazanin; Rabbani, Bahareh; Mahdieh, Nejat
MAG
发表日期：2025
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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene

拓展先天性糖皮质激素缺乏症的表型：一名伊朗患者因MC2R基因致病变异而出现胆汁淤积

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2024/3201949
Maleknejad, Shohreh; Dalili, Setila; Sharifi, Ameneh; Hassanzadeh Rad, Afagh; Bayat, Reza; Rabbani, Bahareh; Mahdieh, Nejat
免疫/内分泌
发表日期：2024
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Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants

APOC2相关高甘油三酯血症的主要后果：胰腺炎：无义突变和移码突变的作用

期刊:International Journal of Genomics
影响因子:1.9
doi:10.1155/2024/6653857
Rabbani, Bahareh; Moghadam, Mohadeseh Aghli; Esmaeili, Shiva; Rabbani, Amirhassan; Akbari, Bahman; Mahdieh, Nejat
胰腺炎
发表日期：2024
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Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

FBP1基因错义致病变异导致家族内表型变异

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101136
Dalili, Setila; Sedighi Pirsaraei, Nasrin; Sharifi, Ameneh; Pouryousef, Alireza; Aghaee, Fatemeh; Bayat, Reza; Ghavami, Babak; Rabbani, Bahareh; Mahdieh, Nejat
发表日期：2024
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A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study

LAMP2基因突变热点：揭示c.877C>T变异的家族内表型变异和全球分布：一项描述性研究

期刊:Cell Journal
影响因子:1.7
doi:10.22074/cellj.2023.2007469.1372
Kavousi, Saeideh; Dalili, Mohammad; Rabbani, Bahareh; Behmanesh, Mehrdad; Noruzinia, Mehrdad; Mahdieh, Nejat
LAMP2
发表日期：2024
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TCAP gene is not a common cause of cardiomyopathy in Iranian patients

TCAP基因并非伊朗患者心肌病的常见病因

期刊:European Journal of Medical Research
影响因子:3.4
doi:10.1186/s40001-023-01019-4
Alaei, Zahra; Zamani, Nasrin; Rabbani, Bahareh; Mahdieh, Nejat
心血管
心肌病
发表日期：2023
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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

对脑白质营养不良症进行基因检测，揭示了大型队列中广泛的异质性，并报告了五种常见疾病和 38 种新变异。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-021-82778-0
Mahdieh, Nejat; Soveizi, Mahdieh; Tavasoli, Ali Reza; Rabbani, Ali; Ashrafi, Mahmoud Reza; Kohlschütter, Alfried; Rabbani, Bahareh
神经科学
发表日期：2021
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p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

p.Gln318X 和 p.Val281Leu 是特发性早熟儿童 CYP21A2 基因的主要变异。

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2020/4329791
Soveizi, Mahdieh; Mahdieh, Nejat; Setoodeh, Aria; Sayarifard, Fatemeh; Abbasi, Farzaneh; Bose, Himangshu S; Rabbani, Bahareh; Rabbani, Ali
发表日期：2020
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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

家族性糖皮质激素缺乏症的遗传学视角：两种新变异的计算机分析

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2020/2190508
Heshmatzad, Katayoun; Mahdieh, Nejat; Rabbani, Ali; Didban, Abdolah; Rabbani, Bahareh
免疫/内分泌
发表日期：2020
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