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Mahmoud Reza Ashrafi

children's medical center
H指数:26
被引数:2,686

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Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing

伊朗人遗传代谢病相关基因及突变谱:一项基于下一代测序和Sanger测序的11年分析

2026-10-020
OAAI
Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study

伊朗过氧化物酶体障碍的临床、遗传、神经影像及严重程度谱:一项多中心队列研究

2026-08-120
OA
Three repeated intrathecal injections of allogenic umbilical cord-derived mesenchymal stromal cells in autism spectrum disorder: a Phase I clinical trial

三次异体脐带来源间充质基质细胞鞘内注射治疗自闭症谱系障碍:一项I期临床试验

2026-07-300
OA
Impact of stem cell therapy on brain metabolic profile in cerebral palsy assessed by magnetic resonance spectroscopy in a randomized clinical trial

随机临床试验中干细胞疗法对脑瘫患者脑代谢谱的影响:磁共振波谱分析评估

2026-05-190
OAAI
Carrier frequency of spinal muscular atrophy: a large-scale study in Iranian population
2025-11-010
PRE
ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects

ATM表达和激活:伴有和不伴有类别转换重组缺陷的共济失调毛细血管扩张症患者

2025-01-240
OA
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data

risdiplam与nusinersen在2型和3型脊髓性肌萎缩患者中的比较疗效:一项基于真实世界数据的队列研究

2024-12-200
PRE
A Comprehensive Overview of NF1 Mutations in Iranian Patients
2024-07-020
PRE
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
2024-04-032
OAAI
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients (vol 18, 177, 2023)
2023-07-170
OAAI
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
2023-07-052
OAAI