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

Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations

在卡塔尔人群中鉴定出一种具有独特基因型-表型相关性的复发性BRCA1变异

Bujassoum Al-Bader, Salha; Al-Mulla, Hajer; Al-Habish, Hind; Kusasi, Sitti; Abduo, Nema; Bakheet, Nawal; Ghazouani, Hafedh; Sidenna, Mariem; Abbaszadeh, Fatemeh; Alsulaiman, Reem

From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape

从生物样本库到临床:卡塔尔精准医疗领域中BRCA1/2检测结果可指导临床应用的试点研究

Al Bader, Salha Bujassoum; Habish, Hind; Almulla, Hajer; Abbaszadeh, Fatemeh; Sidenna, Mariem; Fadl, Tasnim; Alvi, Mohamed; Eldeeb, Marwa; Farah, Huda; Elfatih, Amal; Badji, Radja Messai; Chouchane, Lotfi; Afifi, Nahla; Ismail, Said; Alsulaiman, Reem; Al-Muftah, Wadha

BRCA1-specific machine learning model predicts variant pathogenicity with high accuracy

BRCA1特异性机器学习模型能够高精度地预测变异致病性。

Khandakji, Mohannad; Habish, Hind Hassan Ahmed; Abdulla, Nawal Bakheet Salem; Kusasi, Sitti Apsa Albani; Abdou, Nema Mahmoud Ghobashy; Al-Mulla, Hajer Mahmoud M A; Al Sulaiman, Reem Jawad A A; Bu Jassoum, Salha M; Mifsud, Borbala

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population

卡塔尔高危人群中林奇综合征的患病率及基因型-表型相关性

Sidenna, Mariem; Khodjet-El-Khil, Houssein; Al Mulla, Hajar; Al-Shafai, Mashael; Habish, Hind Hassan; Al-Sulaiman, Reem; Al-Bader, Salha Bujassoum