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

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights

对突尼斯先天性心脏病患者拷贝数变异的全面分析:染色体微阵列分析的启示

Khelifi, Rim; Othmane, Houcemeddine; Ajmi, Houda; Slimani, Wafa; Bennour, Ayda; Dardour, Leila; Soyeh, Najla; Benzarti, Amira; Rjiba, Khouloud; Abdallah, Hamza Hadj; Rassass, Ahmed; Kooli, Rim; Mghirbi, Oussama; Kammoun, Molka; Khelifa, Hela Ben; Bahri, Farouk; Hayet, Mkaddem; Ammar, Aouina; Ghanmi, Sahbi; Mathlouthi, Jihene; Ben Hamida, Hayet; Habboul, Zakia; Kemis, Tarek; Kharrat, Habib; Hassine, Nadia; Tej, Amel; Bellalah, Manel; Chouikh, Fatma; Houssine, Mejaouel; Mahdhaoui, Abdallah; Kortas, Chokri; Guith, Aida; Maatouk, Faouzi; Naffeti, Elies; Soua, Habib; Gribaa, Moez; Saad, Ali; Mougou-Zerelli, Soumaya

Genome Tunisia Project: paving the way for precision medicine in North Africa

突尼斯基因组计划:为北非精准医疗铺平道路

Hamdi, Yosr; Trabelsi, Mediha; Ghedira, Kais; Boujemaa, Maroua; Ben Ayed, Ikhlas; Charfeddine, Cherine; Souissi, Amal; Rejeb, Imen; Kammoun Rebai, Wafa; Hkimi, Chaima; Neifar, Fadoua; Jandoubi, Nouha; Mkaouar, Rahma; Chaouch, Melek; Bennour, Ayda; Kamoun, Selim; Chaker Masmoudi, Hend; Abid, Nabil; Mezghani Khemakhem, Maha; Masmoudi, Saber; Saad, Ali; BenJemaa, Lamia; BenKahla, Alia; Boubaker, Samir; Mrad, Ridha; Kamoun, Hassen; Abdelhak, Sonia; Gribaa, Moez; Belguith, Neila; Kharrat, Najla; Hmida, Dorra; Rebai, Ahmed

Evaluation of Previous ECG Algorithms for Identifying the Culprit Artery in Inferior STEMI

评估既往心电图算法在识别下壁ST段抬高型心肌梗死罪犯动脉中的应用

Hann, B C; Poritz, M A; Walter, P; Fall, S; Elhraiech, A; Ghali, H; Farhat, S; Slim, M; Ouennes, S; Ben Ali, I; Thabet, H; Gribaa, R; Neffati, I

Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system

突尼斯准备好迎接精准医疗了吗?低收入和中等收入国家医疗保健体系中医学基因组学面临的挑战

Trabelsi, Narjes; Othman, Houcemeddine; Bedhioufi, Hafsi; Chouk, Hamza; El Mabrouk, Haïfa; Mahdouani, Marwa; Gribaa, Moez; Saad, Ali; H'mida, Dorra

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

对泛素蛋白连接酶 E3A 基因作为安格曼综合征潜在靶点的遗传学研究

Manoubi, Wiem; Mahdouani, Marwa; Hmida, Dorra; Kdissa, Ameni; Rouissi, Aida; Turki, Ilhem; Gueddiche, Neji; Soyah, Najla; Saad, Ali; Bouwkamp, Christian; Elgersma, Ype; Mougou-Zerelli, Soumaya; Gribaa, Moez

Functional analysis of MMR gene VUS from potential Lynch syndrome patients

对潜在林奇综合征患者的MMR基因VUS进行功能分析

Mahdouani, Marwa; Zhuri, Drenushe; Sezginer Guler, Hazal; Hmida, Dorra; Sana, Mokni; Azaza, Mohamed; Ben Said, Mariem; Masmoudi, Saber; Hmila, Fahmi; Youssef, Sabri; Ben Sghaier, Rihab; Brieger, Angela; Zeuzem, Stefan; Saad, Ali; Gurkan, Hakan; Yalcintepe, Sinem; Gribaa, Moez; Plotz, Guido

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

染色体不平衡以及SOX8、ZNRF3和HHAT基因变异在人类早期睾丸发育中的作用的更多证据

Rjiba, Khouloud; Mougou-Zerelli, Soumaya; Hamida, Imen Hadj; Saad, Ghada; Khadija, Bochra; Jelloul, Afef; Slimani, Wafa; Hasni, Yosra; Dimassi, Sarra; Khelifa, Hela Ben; Sallem, Amira; Kammoun, Molka; Abdallah, Hamza Hadj; Gribaa, Moez; Bignon-Topalovic, Joelle; Chelly, Sami; Khairi, Hédi; Bibi, Mohamed; Kacem, Maha; Saad, Ali; Bashamboo, Anu; McElreavey, Kenneth

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

MLH1错义变异的功能表征揭示了其致病机制并阐明了其在癌症中的作用。

Mahdouani, Marwa; Ben Ahmed, Slim; Hmila, Fahmi; Rais, Henda; Ben Sghaier, Rihab; Saad, Hanene; Ben Said, Mariem; Masmoudi, Saber; Hmida, Dorra; Brieger, Angela; Zeuzem, Stefan; Saad, Ali; Gribaa, Moez; Plotz, Guido

Neonatal cardiogenic shock revealing obstructive cardiac Hibernoma: case report

新生儿心源性休克揭示阻塞性心脏冬眠瘤:病例报告

Gribaa, Rym; Kacem, Marwen; Ouannes, Sami; Majdoub, Wiem; Thabet, Houssem; Ali, Imen Ben; Elheraiche, Aymen; Slim, Mehdi; Hmissa, Sihem; Neffati, Elyes; Cherif, Taieb; Kortas, Chokri; Marah, Jamli; Jerbi, Sofiene

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family

突尼斯一个家族因11β-羟化酶缺乏症导致的先天性肾上腺增生症

Elfekih, Hamza; Abdelkrim, Asma Ben; Marzouk, Hajer; Saad, Ghada; Gribaa, Moez; Hasni, Yosra; Maaroufi, Amel