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

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

报告一种与高磷酸酶症和智力障碍相关的PGAP3基因新型致病变异：病例报告及文献综述

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70206
Salmaninejad, Arash; Seyedtaghia, Mohammad Reza; Bereshneh, Ali Hosseini; Azizi, Nasrin; Bayat, Reza; Esnaashari, Somaye; Aminzadeh, Vahid; Koohmanaee, Shahin; Savad, Shahram; Mojarrad, Majid; Dalili, Setila
发表日期：2026
文献求助 收藏

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

伊朗枫糖尿症诊断和治疗综合指南：基于循证医学和共识的方法

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03533-6
Rostampour, Noushin; Dalili, Setila; Moravej, Hossein; Afshar, Zhila; Yazdani, Negar; Mousavi, Seyedeh Tahereh; Rostami, Parastoo; Zamanfar, Daniel; Yahay, Maryam; Nikravesh, Abdolhossein; Beyzaei, Zahra; Davoodi, Mohamad Ahangar; Sedaghat, Atefeh; Hakemzadeh, Tahora; Talea, Ali
发表日期：2025
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Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach

伊朗线粒体疾病诊断和治疗综合指南：基于循证医学和共识的方法

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04127-y
Dalili, Setila; Rostampour, Noushin; Mousavi, Seyedeh Tahereh; Joni, Saeid Sadeghi; Mahdieh, Nejat; Rad, Afagh Hassanzadeh; Hakemzadeh, Seyede Tahoura; Nikpour, Sara; Talea, Ali; Moravvej, Hossein
线粒体
发表日期：2025
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Influence of rs1292037 Genetic Variant on miR-21 Gene Expression in Patients With Type 1 Diabetes Mellitus: A Case-Control Study

rs1292037基因变异对1型糖尿病患者miR-21基因表达的影响：一项病例对照研究

期刊:Health Science Reports
影响因子:2.1
doi:10.1002/hsr2.70480
Bayat, Reza; Salehi, Zivar; Dalili, Setila; Mashayekhi, Farhad
糖尿病
代谢
发表日期：2025
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Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis

女性完全性性腺发育不全患者存在SRY重复的等臂双着丝粒Y染色体

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-025-00728-1
Salmaninejad, Arash; Yaghoubi, Zahra; Haghzad, Tahereh; Latifi, Maryam; Bayat, Reza; Esnaashari, Somaye; Dalili, Setila
发育与干细胞
免疫/内分泌
发表日期：2025
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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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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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Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

一名伊朗女孩因NF1基因致病变异而患上神经纤维瘤病-努南综合征和生长发育迟缓

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-023-00460-0
Dalili, Setila; Hoseini Nouri, Seyyedeh Azade; Bayat, Reza; Koohmanaee, Shahin; Tabrizi, Manijeh; Zarkesh, Marjaneh; Tarang, Alireza; Mahdieh, Nejat
发育与干细胞
NF1
发表日期：2023
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Effect of concurrent resistance-aerobic training on inflammatory factors and growth hormones in children with type 1 diabetes: a randomized controlled clinical trial

同步抗阻有氧训练对1型糖尿病儿童炎症因子和生长激素的影响：一项随机对照临床试验

期刊:Trials
影响因子:2
doi:10.1186/s13063-023-07553-0
Marzieh Nazari, Ramin Shabani, Afagh Hassanzadeh-Rad, Mohammad Ali Esfandiari, Setila Dalili
代谢
糖尿病
发表日期：2023
文献求助 收藏

The Consensus on the Diagnosis and Management of Congenital Hypothyroidism in Term Neonates

足月新生儿先天性甲状腺功能减退症的诊断和治疗共识

期刊:International Journal of Preventive Medicine
影响因子:1.5
doi:10.4103/ijpvm.ijpvm_535_21
Hashemipour, Mahin; Rabbani, Ali; Rad, Afagh Hassanzadeh; Dalili, Setila
甲状腺功能减退
免疫/内分泌
发表日期：2023
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