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

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

阿联酋国民遗传疾病和基因变异谱：来自CTGA数据库的启示

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1177204
Bizzari, Sami; Nair, Pratibha; Hana, Sayeeda; Deepthi, Asha; Al-Ali, Mahmoud Taleb; Al-Gazali, Lihadh; El-Hayek, Stephany
发表日期：2023
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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

黎巴嫩20年临床和遗传神经肌肉队列分析：一项国际合作

期刊:Journal of Neuromuscular Diseases
影响因子:3.4
doi:10.3233/JND-210652
Megarbane, Andre; Bizzari, Sami; Deepthi, Asha; Sabbagh, Sandra; Mansour, Hicham; Chouery, Eliane; Hmaimess, Ghassan; Jabbour, Rosette; Mehawej, Cybel; Alame, Saada; Hani, Abeer; Hasbini, Dana; Ghanem, Ismat; Koussa, Salam; Al-Ali, Mahmoud Taleb; Obeid, Marc; Talea, Diana Bou; Lefranc, Gerard; Lévy, Nicolas; Leturcq, France; El Hayek, Stephany; Delague, Valérie; Urtizberea, J Andoni
发表日期：2022
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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders

阿拉伯人遗传学目录（CTGA）数据库：分析黎巴嫩遗传疾病数据

期刊:Genes
影响因子:2.8
doi:10.3390/genes12101518
Bizzari, Sami; Nair, Pratibha; Deepthi, Asha; Hana, Sayeeda; Al-Ali, Mahmoud Taleb; Megarbané, André; El-Hayek, Stephany
发表日期：2021
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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

关于第四例报道的哈马米综合征家族的临床和分子生物学最新进展

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000517253
Mégarbané, André; Hana, Sayeeda; Mégarbané, Hala; Castro, Christel; Baulande, Sylvain; Criqui, Audrey; Roëckel-Trevisiol, Nathalie; Dagher, Christel; Al-Ali, Mahmoud Taleb; Desvignes, Jean-Pierre; Mahfoud, Daniel; El-Hayek, Stephany; Delague, Valérie
发表日期：2021
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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

阿联酋一个家族中发现了一种新的、推测为无义突变的FGD1变异，该变异导致Aarskog-Scott综合征。

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-017-0781-4
Hamzeh, Abdul Rezzak; Saif, Fatima; Nair, Pratibha; Binjab, Asma Jassim; Mohamed, Madiha; Al-Ali, Mahmoud Taleb; Bastaki, Fatma
发表日期：2017
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Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report

鉴定出一种导致综合征性智力障碍的新型CTCF基因突变——病例报告

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-017-0429-0
Bastaki, Fatma; Nair, Pratibha; Mohamed, Madiha; Malik, Ethar Mustafa; Helmi, Mustafa; Al-Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak
CTCF
发表日期：2017
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Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

多因素疾病的遗传学：第六届泛阿拉伯人类遗传学会议论文集

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-016-0854-4
Nair, Pratibha; Bizzari, Sami; Rajah, Nirmal; Assaf, Nada; Al-Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak
Human
发表日期：2016
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Genomics into Healthcare: the 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium

基因组学融入医疗保健：第五届泛阿拉伯人类遗传学大会暨2013年金螺旋研讨会

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22530
Fortina, Paolo; Al Khaja, Najib; Al Ali, Mahmoud Taleb; Hamzeh, Abdul Rezzak; Nair, Pratibha; Innocenti, Federico; Patrinos, George P; Kricka, Larry J
Human
发表日期：2014
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Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

一例伴有面部畸形和条纹状色素沉着的儿童，通过aCGH和FISH鉴定出异常的超数标记染色体，为inv dup(3)(q25.33qter) de novo：病例报告

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/1755-8166-1-19
Murthy, Sabita K; Malhotra, Ashok K; Jacob, Preenu S; Naveed, Sehba; Al-Rowaished, Eman Em; Mani, Sara; Padariyakam, Shabeer; Pramathan, R; Nath, Ravi; Al-Ali, Mahmoud Taleb; Al-Gazali, Lihadh
发表日期：2008
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