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

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review

伊朗患者克拉伯病的临床和分子特征:病例报告和文献综述

Asgari, Parnia; Vahed, Iman Elahi; Fateh, Sahand Tehrani; Hashemi-Gorji, Farzad; Ghasemi, Mohammad-Reza; Mardi, Ali; Tonekaboni, Seyed Hassan; Miryounesi, Mohammad; Salehpour, Shadab

Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism.

甘氨酸 N-酰基转移酶缺乏症是由 GLYAT 基因纯合无义变异引起的:一种新型先天性代谢缺陷

Nourbakhsh Mona, Miryounesi Mohammad, Tale Ali, Karimzadeh Parvaneh, Sadeghi Hossein, Ghasemi Mohammad-Reza, Alipour Nasrin, Pourbakhtyaran Elham, Hooman Nakisa, Razzaghy-Azar Maryam, Nourbakhsh Mitra, Klaas Lil, Schulke Daniel, Sass Jörn Oliver

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

KDM5C基因突变型X连锁智力障碍患者的临床特征和遗传特征:基于175例既往病例的表型-基因型相关性研究及新变异的鉴定

Ghasemi, Mohammad-Reza; Esmaeilizadeh, Zahra; Tehrani Fateh, Sahand; Sadeghi, Hossein; Bagheri, Saman; Hashemi-Gorji, Farzad; Sheikhi Nooshabadi, Morteza; Madannezhad, Rasoul; Tavabe Ghavami, Toktam Sadat; Mirfakhraie, Reza; Miryounesi, Mohammad

Evaluation of the efficacy of mesenchymal stem cells derived conditioned medium in the treatment of striae distensae: a double blind randomized clinical trial

间充质干细胞来源条件培养基治疗妊娠纹疗效评价:一项双盲随机临床试验

Behrangi, Elham; Feizollahi, Masoomeh; Zare, Sona; Goodarzi, Azadeh; Ghasemi, Mohammad Reza; Sadeghzadeh-Bazargan, Afsaneh; Dehghani, Abbas; Nouri, Maryam; Zeinali, Roya; Roohaninasab, Masoomeh; Nilforoushzadeh, Mohammad Ali

Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions

非编码RNA作为实体瘤受体酪氨酸激酶信号通路潜在治疗靶点:现状与展望

Moeinafshar, Aysan; Nouri, Mohammad; Shokrollahi, Nima; Masrour, Mahdi; Behnam, Amirmohammad; Tehrani Fateh, Sahand; Sadeghi, Hossein; Miryounesi, Mohammad; Ghasemi, Mohammad-Reza

Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study

伊朗人群自闭症谱系障碍中Csnk1a1p表达改变:病例对照研究

Rahmani, Zahra; Rahmani, Dina; Jazi, Marie Saghaeian; Ghasemi, Mohammad-Reza; Sadeghi, Hossein; Miryounesi, Mohammad; Razjouyan, Katayoon; Fayyazi Bordbar, Mohammad Reza

Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

在表现出硫胺素代谢功能障碍综合征的家族中鉴定出TPK1和SLC19A3基因的新突变

Norouzi Rostami, Fatemeh; Sadeghi, Hossein; Hashemi-Gorji, Farzad; Tehrani Fateh, Sahand; Mirfakhraie, Reza; Karimzadeh, Parvaneh; Davarpanah, Milad; Jamshidi, Sanaz; Madannejad, Rasoul; Moghimi, Parinaz; Ekrami, Mahdis; Miryounesi, Mohammad; Ghasemi, Mohammad-Reza

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review

两例遗传性感觉和自主神经病9型病例中发现新型TECPR2变异:来自基因特征分析和文献综述的启示

Moeinafshar, Aysan; Tehrani Fateh, Sahand; Hashemi-Gorji, Farzad; Karimzadeh, Parvaneh; Gholibeglou, Elham; Rostami, Masoumeh; Sadeghi, Hossein; Miryounesi, Mohammad; Ghasemi, Mohammad-Reza

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

对科内莉亚-德-兰格综合征谱系进行全面回顾并拓展其遗传图谱:来自外显子组阴性病例的新突变和皮肤活检的启示

Tehrani Fateh, Sahand; Mohammad Zadeh, Nadia; Salehpour, Shadab; Hashemi-Gorji, Farzad; Omidi, Ashkan; Sadeghi, Hossein; Mirfakhraie, Reza; Moghimi, Parinaz; Keyvanfar, Sepideh; Mohammadi Sarvaleh, Sepideh; Miryounesi, Mohammad; Ghasemi, Mohammad-Reza

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

通过全面的分子文献综述,拓宽脑桥小脑发育不全新突变的表型和基因型谱。

Ghasemi, Mohammad-Reza; Tehrani Fateh, Sahand; Moeinafshar, Aysan; Sadeghi, Hossein; Karimzadeh, Parvaneh; Mirfakhraie, Reza; Rezaei, Mitra; Hashemi-Gorji, Farzad; Rezvani Kashani, Morteza; Fazeli Bavandpour, Fatemehsadat; Bagheri, Saman; Moghimi, Parinaz; Rostami, Masoumeh; Madannejad, Rasoul; Roudgari, Hassan; Miryounesi, Mohammad