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

Sahli, Chayma; Mabrouk, Sameh; Jemmeli, Nesrine; Nouir, Salsabil; Ltaifa, Roua; Messaoud, Taieb; Abdennebi, Hassen Ben; Ferchichi, Salima; Ghorbel, Mohamed; Laradi, Sandrine; Chkioua, Latifa

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

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

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

Chkioua, Latifa; Amri, Yessine; Sahli, Chayma; Nasri, Tawfik; Miladi, Mohamed Omar; Massoud, Taieb; Laradi, Sandrine; Ghorbel, Mohamed; Ben Abdennebi, Hassen

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

Chkioua, Latifa; Amri, Yessine; Sahli, Chayma; Rhouma, Ferdawes Ben; Chehida, Amel Ben; Tebib, Neji; Messaoud, Taieb; Abdennebi, Hassen Ben; Laradi, Sandrine

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

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

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

Chkioua, Latifa; Amri, Yessine; Chaima, Sahli; Fenni, Ferdawes; Boudabous, Hela; Ben Turkia, Hadhami; Messaoud, Taieb; Tebib, Neji; Laradi, Sandrine

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

Chkioua, Latifa; Amri, Yessine; Chaima, Sahli; Fenni, Ferdawes; Boudabous, Hela; Ben Turkia, Hadhami; Messaoud, Taieb; Tebib, Neji; Laradi, Sandrine

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

Chkioua, L; Grissa, O; Leban, N; Gribaa, M; Boudabous, H; Turkia, H Ben; Ferchichi, S; Tebib, N; Laradi, S

Platelet Inflammatory Response to Stress

血小板对压力的炎症反应

Cognasse, Fabrice; Laradi, Sandrine; Berthelot, Philippe; Bourlet, Thomas; Marotte, Hubert; Mismetti, Patrick; Garraud, Olivier; Hamzeh-Cognasse, Hind

Evidence of CD40L/CD40 pathway involvement in experimental transfusion-related acute lung injury

CD40L/CD40 通路参与实验性输血相关急性肺损伤的证据

Sofiane Tariket, Hind Hamzeh-Cognasse, Sandrine Laradi, Charles-Antoine Arthaud, Marie-Ange Eyraud, Thomas Bourlet, Philippe Berthelot, Olivier Garraud, Fabrice Cognasse