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

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia

胱氨酸病患者的分子特征：突尼斯中部以 CTNS c.829dup 突变为主

期刊:BMC Genomic Data
影响因子:2.5
doi:10.1186/s12863-026-01411-z
Sahli, Chayma; Mabrouk, Sameh; Jemmeli, Nesrine; Nouir, Salsabil; Ltaifa, Roua; Messaoud, Taieb; Abdennebi, Hassen Ben; Ferchichi, Salima; Ghorbel, Mohamed; Laradi, Sandrine; Chkioua, Latifa
发表日期：2026
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Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights

突尼斯MPS I家族中IDUA基因的遗传变异：鉴定出一种破坏底物结合的新型微缺失及其结构解析

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101222
Rebai, Mariem; Amri, Yessine; Sahli, Chaima; Foddha, Hajer; Messaoud, Taieb; Boudabous, Hela; Ben Abdennebi, Hassen; Ferchichi, Salima; Chkioua, Latifa
发表日期：2025
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Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa

I型粘多糖贮积症：p.P533R突变在北非的创始人效应

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-024-10724-1
Chkioua, Latifa; El Fissi, Houda; Amri, Yessine; Sahli, Chayma; Bouzid, Fadoua; Boudabous, Hela; Tbib, Neji; Ferchichi, Salima; Massoud, Taieb; Alif, Najat; Laradi, Sandrine; Ben Abdennebi, Hassen
P53
发表日期：2024
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Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia

莱伯遗传性视神经病变中的呼吸链复合物I缺陷：来自突尼斯眼科和分子研究的启示

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-024-11060-0
Chkioua, Latifa; Amri, Yessine; Sahli, Chayma; Nasri, Tawfik; Miladi, Mohamed Omar; Massoud, Taieb; Laradi, Sandrine; Ghorbel, Mohamed; Ben Abdennebi, Hassen
发表日期：2024
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Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

鉴定导致突尼斯1b型糖原贮积症患者葡萄糖-6-磷酸转运蛋白缺陷的突变

期刊:Diabetology & Metabolic Syndrome
影响因子:3.9
doi:10.1186/s13098-023-01065-2
Chkioua, Latifa; Amri, Yessine; Sahli, Chayma; Rhouma, Ferdawes Ben; Chehida, Amel Ben; Tebib, Neji; Messaoud, Taieb; Abdennebi, Hassen Ben; Laradi, Sandrine
发表日期：2023
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Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

突尼斯眼胱氨酸病患者CTNS基因突变的分子特征分析

期刊:Diagnostic Pathology
影响因子:2.3
doi:10.1186/s13000-022-01221-8
Chkioua, Latifa; Amri, Yessine; Saheli, Chaima; Mili, Wassila; Mabrouk, Sameh; Chabchoub, Imen; Boudabous, Hela; Azzouz, Wissem Ben; Turkia, Hadhami Ben; Ferchichi, Salima; Tebib, Neji; Massoud, Taieb; Ghorbel, Mohamed; Laradi, Sandrine
发表日期：2022
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Correction to: Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

更正：突尼斯患者的岩藻糖苷贮积症：FUCA1酶的突变分析和基于同源性的建模

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-01149-w
Chkioua, Latifa; Amri, Yessine; Chaima, Sahli; Fenni, Ferdawes; Boudabous, Hela; Ben Turkia, Hadhami; Messaoud, Taieb; Tebib, Neji; Laradi, Sandrine
发表日期：2021
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Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

突尼斯患者的岩藻糖苷酶缺乏症：FUCA1酶的突变分析和基于同源性的建模

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-01061-3
Chkioua, Latifa; Amri, Yessine; Chaima, Sahli; Fenni, Ferdawes; Boudabous, Hela; Ben Turkia, Hadhami; Messaoud, Taieb; Tebib, Neji; Laradi, Sandrine
发表日期：2021
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The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

亨特综合征的突变谱揭示了突尼斯患者的生化特征与临床特征之间的相关性

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-020-01051-9
Chkioua, L; Grissa, O; Leban, N; Gribaa, M; Boudabous, H; Turkia, H Ben; Ferchichi, S; Tebib, N; Laradi, S
发表日期：2020
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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

在患有赫勒综合征的突尼斯家系中发现一种新的剪接位点IDUA基因突变

期刊:Diagnostic Pathology
影响因子:2.3
doi:10.1186/s13000-018-0710-3
Chkioua, Latifa; Boudabous, Hela; Jaballi, Ibtissem; Grissa, Oussama; Turkia, Hadhami Ben; Tebib, Neji; Laradi, Sandrine
发表日期：2018
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