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

Consanguinity in the Lebanese population: knowledge, attitudes and practices

黎巴嫩人口中的近亲结婚:认知、态度和实践

Chouery, Eliane; Ibrahim, José-Noel; Deeb, Mary E; Sobh, Ali; Ghanem, Mohamad; Sobh, Jeanine; Choueiry, Francesca El; Rashwan, Ramy; Swaidan, Dana; Abdelrazzak, Aya; Massad, Christian; Fouani, Adam El; Mehawej, Cybel; Megarbane, Andre

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity

马格里布和约旦语前孤立性耳聋和厄舍尔综合征的遗传学:利用纯合子的潜力

Riahi, Zied; Boucher, Sophie; Abdi, Samia; Wong Jun Tai, Fabienne; Singh-Estivalet, Amrit; Aghaie, Asadollah; Niasme-Grare, Magali; Hardelin, Jean-Pierre; Behlouli, Asma; Dahmani, Malika; Talbi, Sonia; Bouyacoub, Yosra; Mkaouar, Rahma; Charfeddine, Cherine; Amalou, Ghita; Bakhchane, Amina; Bousfiha, Amale; Salime, Sara; Elrharchi, Soukaina; Salame, Malak; Hadrami, Mouna; Boussaty, Ely; Charoute, Hicham; Detsouli, Mustapha; Snoussi, Khalid; Rouba, Hassan; Hachmi, Hala El; Veten, Fatimetou; Meiloud, Ghlana; Marrakchi, Jihene; Zainine, Rim; Chahed, Houda; Besbes, Ghazi; Trabelsi, Mediha; Mrad, Ridha; Kraoua, Ichraf; Ouhab, Sofiane; Djennaoui, Djamel; Boudjenah, Farid; Chouery, Eliane; Mustapha, Mirna; Houmeida, Ahmed; Barakat, Abdelhamid; Khodja, Fatima Ammar; Makrelouf, Mohamed; Zenati, Akila; Beltaief, Najeh; Abdelhak, Sonia; Petit, Christine; Bonnet, Crystel

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments

POLD3单倍体功能不全与非综合征性感觉神经性成人起病进行性听力和平衡障碍有关。

Chouery, Eliane; Mehawej, Cybel; Saade, Rami; Barake, Rana; Zarecki, Patryk; Gennery, Catherine; Corbani, Sandra; Korban, Rima; Hamam, Ali; Nasser Eldin, Jade; Yamout, Mohamad; Banna, Mazen; Yamout, Abdul Kader Afif; Adhami, Fawaz; Megarbane, Andre; Mustapha, Mirna

Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?

在 500 名黎巴嫩参与者队列中,确定性与不确定性可操作的次要发现:应该向患者报告什么?

Eileen Marie Hanna ,Cybel Mehawej ,Yazid Hoblos ,Kelven Rahy ,Andre Megarbane ,Eliane Chouery

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype

先天性骨骼发育不良合并心脏畸形患者中3个基因变异的共存:混合表型带来的诊断挑战

Nair, Pratibha; Bizzari, Sami; Mehawej, Cybel; Chouery, Eliane; Audi, Perla; Corbani, Sandra; Korban, Rima; Mahfoud, Daniel; Superti-Furga, Andrea; El-Hayek, Stepahny; Megarbane, Andre

Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes

同胞间混合表型:尼古拉德斯-巴雷特综合征和颅缝早闭综合征的双重诊断

Bizzari, Sami; Mehawej, Cybel; Chouery, Eliane; Nair, Pratibha; Corbani, Sandra; Lefranc, Gerard; El-Hayek, Stephany; Megarbane, Andre

Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study

门静脉窦血管疾病的遗传易感性:一项基于功能基因组学的多代家族研究

Shan, Jingxuan; Megarbane, André; Chouchane, Aziz; Karthik, Deepak; Temanni, Ramzi; Romero, Atilio Reyes; Hua, Huiying; Pan, Chun; Chen, Xixi; Subramanian, Murugan; Saad, Chadi; Mbarek, Hamdi; Mehawej, Cybel; Chouery, Eliane; Abuaqel, Sirin W; Dömling, Alexander; Remadi, Sami; Yaghi, Cesar; Li, Pu; Chouchane, Lotfi

Genetic Polymorphisms Involved in Bladder Cancer: A Global Review

膀胱癌相关遗传多态性:全球综述

Kourie, Hampig Raphael; Zouein, Joseph; Succar, Bahaa; Mardirossian, Avedis; Ahmadieh, Nizar; Chouery, Eliane; Mehawej, Cybel; Jalkh, Nadine; Kattan, Joseph; Nemr, Elie

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

脊髓眼综合征:又一家族病例报告及表型谱描述

Chouery, Eliane; Karam, Rim; Mrad, Yves Najm; Mehawej, Cybel; Dib El Jalbout, Nahia; Bleik, Jamal; Mahfoud, Daniel; Megarbane, Andre

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

CHAMP1相关疾病:分享20年的全面临床随访和文献回顾

Abi Raad, Sarah; Yazbeck Karam, Vanda; Chouery, Eliane; Mehawej, Cybel; Megarbane, Andre