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

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

利用新一代测序和多重连接依赖性探针扩增方法分析2009名伊朗神经肌肉疾病患者的遗传谱

Molaei, Negar; Alagha, Parnian; Khanbazi, Ali; Beheshtian, Maryam; Ahangari, Fatemeh; Dehdahsi, Shima; Fadaee, Mahsa; Ashki, Mehri; Ghaderi, Zhila; Elahi, Zohreh; Vazehan, Raheleh; Parsimehr, Elham; Nouri, Maryam Mozaffarpour; Saei, Parishad; Noudehi, Khadijeh; Fatehi, Fatemeh; Najafabadi, Shima Zamanian; Abolhassani, Ayda; Afroozan, Fariba; Yazdan, Hilda; Kelishomi, Masoumeh Akbari; Azad, Maryam; Parvini, Farshid; Kassaee, Seyed Mehrdad; Ramezani, Mahtab; Zemorshidi, Fariba; Salimipour, Houman; Abdi, Siamak; Bakhshandeh, MohammadKazem; Fayyazi, Afshin; Zamani, Gholamreza; Ashrafi, Mahmoud Reza; Jamali, Payman; Sarraf, Payam; Okhovat, Ali Asghar; Ashtiani, Bahram Haghi; Fatehi, Farzad; Karimzadeh, Parvaneh; Nafissi, Shahriar; Kahrizi, Kimia; Kariminejad, Ariana; Najmabadi, Hossein

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study

尼曼-匹克病C型(NP-C)患者的临床特征和治疗结果:一项横断面研究

Karimzadeh, Parvaneh; Ahmadabadi, Farzad; Zeinali, Vahide; Kamfar, Sharareh; Ashrafi, Mahmoud Reza; Tavasoli, Ali Reza; Tonekaboni, Seyed Hassan; Ghanaati, Faezeh

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study

肾上腺脑白质营养不良症致病基因突变概述:病例系列研究

Fathi, Mohadeseh; Khalilian, Sheyda; Sayad, Arezou; Karimzadeh, Parvaneh; Ahmadabadi, Farzad; Ghafouri-Fard, Soudeh; Miryounesi, Mohammad

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

BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients

BCKDK基因突变是一种罕见疾病,可导致神经发育迟缓、自闭症和癫痫共病:四例病例系列研究

Karimzadeh, Parvaneh; Kachuei, Maryam; Najmabadi, Hossein; Keramatipour, Mohammad; Rezazadeh, Mohammad; Tasharrofi, Behnoosh; KamaliTabar, Fatemeh

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

下一代测序技术在伊朗人群孟德尔遗传病诊断中的临床应用

Abolhassani, Ayda; Fattahi, Zohreh; Beheshtian, Maryam; Fadaee, Mahsa; Vazehan, Raheleh; Ahangari, Fatemeh; Dehdahsi, Shima; Faraji Zonooz, Mehrshid; Parsimehr, Elham; Kalhor, Zahra; Peymani, Fatemeh; Mozaffarpour Nouri, Maryam; Babanejad, Mojgan; Noudehi, Khadijeh; Fatehi, Fatemeh; Zamanian Najafabadi, Shima; Afroozan, Fariba; Yazdan, Hilda; Bozorgmehr, Bita; Azarkeivan, Azita; Sadat Mahdavi, Shokouh; Nikuei, Pooneh; Fatehi, Farzad; Jamali, Payman; Ashrafi, Mahmoud Reza; Karimzadeh, Parvaneh; Habibi, Haleh; Kahrizi, Kimia; Nafissi, Shahriar; Kariminejad, Ariana; Najmabadi, Hossein

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

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

A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings

伊朗两名兄妹PCDH19基因亲代生殖系嵌合病例报告

Alijanpour, Sahar; Ghafouri-Fard, Soudeh; Tonekaboni, Seyed Hassan; Karimzadeh, Parvaneh; Ahmadabadi, Farzad; Rahimian, Elham; Panjeshahi, Samareh; Miryounesi, Mohammad