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

The Generation of Two Induced Pluripotent Cell Lines from Patients with an Atypical Familial Form of Lung Fibrosis.

从患有非典型家族性肺纤维化的患者中生成两种诱导多能细胞系

期刊:Cells
影响因子:5.2
doi:10.3390/cells14110781
Al-Mutairy Eid, Al Qattan Somaya M, Imtiaz Faiqa, AlAnazi Azizah, Inglis Angela, Al-Rabiah Rana, Al-Hejailan Reem S
细胞生物学
血管生成
发表日期：2025
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Detection of Chromosomal Aneuploidy Using Exome Sequencing

利用外显子组测序检测染色体非整倍体

期刊:Genes
影响因子:2.8
doi:10.3390/genes16090992
Al-Hamed, Mohamed H; Maddirevula, Sateesh; Moghrabi, Nabil; Aldahmesh, Mohammed A; Alfalah, Abdullah H; Khouj, Ebtissal; Altuwaijri, Norah; Alhossiny, Midrar; Imtiaz, Faiqa; Alfares, Ahmed
发表日期：2025
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Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia

维生素D依赖性佝偻病II型患者的临床特征和长期管理：沙特阿拉伯单中心回顾性研究

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2024.1365714
Alsagheir, Afaf; Al-Ashwal, Abdullah; Binladen, Amal; Alhuthil, Raghad; Joueidi, Faisal; Ramzan, Khushnooda; Imtiaz, Faiqa
发表日期：2024
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Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study

沙特阿拉伯家族性乳糜微粒血症患者的临床和分子特征：一项回顾性研究

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2024.1439862
Al-Ashwal, Abdullah; AlHelal, Manal; AlSagheir, Afaf; Alfattani, Areej; Ramzan, Khushnooda; Imtiaz, Faiqa; Alhuthil, Raghad
发表日期：2024
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ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases

ANKS6 变异是产前和新生儿多囊肾的病因

期刊:Genes
影响因子:2.8
doi:10.3390/genes15111374
Almohlesy, Lama S; Imtiaz, Faiqa; Tulbah, Maha; Alhashem, Amal; Alhajooj, Manar; Alhashem, Abdullah; Mabillard, Holly; Sayer, John A; Alharbi, Khalid K; Al-Hamed, Mohamed H
ANKS6
发表日期：2024
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Novel pathogenic MAPKBP1 variant in a family with nephronophthisis

肾痨家族中发现一种新的致病性 MAPKBP1 变异

期刊:Clinical Kidney Journal
影响因子:4.6
doi:10.1093/ckj/sfaa090
Al-Hamed, Mohamed H; Alzaidan, Hamad; Hussein, Maged; Albaik, Lina; Qari, Alya; Sayer, John A; Imtiaz, Faiqa
MAPK/ERK
发表日期：2021
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25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

沙特阿拉伯27名受试者25-羟化酶维生素D缺乏症：CYP2R1突变的临床和分子报告

期刊:Endocrine Connections
影响因子:2.8
doi:10.1530/EC-21-0102
Bakhamis, Sarah; Imtiaz, Faiqa; Ramzan, Khushnooda; De Vol, Edward; Al-Sagheir, Osamah; Al-Rajhi, Abdulrahman; Alashwal, Abdullah; Bin Abbas, Bassam; Sakati, Nadia; Al-Sagheir, Afaf
发表日期：2021
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Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

由单个 OXCT1 基因突变引起的琥珀酰辅酶A：3-酮酸辅酶A转移酶缺乏症的临床表现及预后：17 例报告

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12248
Alghamdi, Malak A; Tohary, Mohammed; Alzaidan, Hamad; Imtiaz, Faiqa; Al-Hassnan, Zuhair N
XCT
发表日期：2021
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Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

丙酸血症潜在突变谱及沙特阿拉伯常见突变基因型-表型相关性的进一步研究

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2018.12.004
Al-Hamed, Mohamed H; Imtiaz, Faiqa; Al-Hassnan, Zuhair; Al-Owain, Mohammed; Al-Zaidan, Hamad; Alamoudi, Mohamed S; Faqeih, Eissa; Alfadhel, Majid; Al-Asmari, Ali; Saleh, M M; Almutairi, Fuad; Moghrabi, Nabil; AlSayed, Moeenaldeen
发表日期：2019
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Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

关节松弛、髌骨复发性脱位和远端尺骨短小是范登恩德-古普塔综合征的特征之一：病例报告

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-018-0531-y
Al-Qattan, Mohammad M; Andejani, Doaa F; Sakati, Nadia A; Ramzan, Khushnooda; Imtiaz, Faiqa
发表日期：2018
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