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

Response to Letter to the Editor

对读者来信的回应

Alblooshi, Hiba; Aljaberi, Najla

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase

蝶呤还原酶中一种新型致病突变家族的临床特征

Mohamed, Feda E; Alzyoud, Lara; Ghattas, Mohammad A; Tabouni, Mohammed; Fienemann, André; Trinh, Joanne; Baydoun, Ibrahim; Kizhakkedath, Praseetha; Alblooshi, Hiba; Shaukat, Qudsia; Amouri, Rim; Farrer, Matthew J; Sassi, Samia Ben; Al-Jasmi, Fatma

Correction: A novel LACC1 variant c.658G > A (p.Asp220Asn) in familial juvenile arthritis: identification and functional analysis

更正:家族性幼年关节炎中一种新的LACC1变异c.658G>A (p.Asp220Asn):鉴定和功能分析

Alblooshi, Hiba; Mustafa, Noor; Khalam, Azeem Abdul; Bharathan, Anjali; Mohammed, Ekhlass; Baydoun, Ibrahim; Tabouni, Mohammed; Allam, Mushal; Almansoori, Meera; Fatima, Tabeer; Aljaberi, Najla

A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.

家族性幼年关节炎中一种新的 LACC1 变异 c.658G>A (p. Asp220Asn):鉴定和功能分析

Alblooshi Hiba, Mustafa Noor, Khalam Azeem Abdul, Bharathan Anjali, Mohammed Ekhlass, Baydoun Ibrahim, Allam Mushal, Almansoori Meera, Fatima Tabeer, Aljaberi Najla

Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records

利用阿联酋医疗记录对用于粘多糖贮积症早期诊断的机器学习模型进行比较

AlShehhi, Aamna; Alblooshi, Hiba; Fadul, Ruba; Tumzghi, Natnael; Tenaiji, Amal Al; Harbi, Mariam Al; Al-Jasmi, Fatma

The impact of familial autoimmunity and familial lupus on the clinical presentations and disease outcomes of SLE patients in the United Arab Emirates

家族性自身免疫和家族性狼疮对阿联酋系统性红斑狼疮患者临床表现和疾病结局的影响

Al Dhaheri, Afra; Alblooshi, Hiba; Bharathan, Anjali; Alneyadi, Asma; Al Ali, Maryam; Alzaabi, Amna; Trad, Jalal; Chandrasekhar Nair, Satish; Aljaberi, Najla

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records

对一组异质性孟德尔遗传病患者及其电子健康记录中心血管疾病基因的遗传变异进行分析

Akawi, Nadia; Al Mansoori, Ghadeera; Al Zaabi, Anwar; Badics, Andrea; Al Dhaheri, Noura; Al Shamsi, Aisha; Al Tenaiji, Amal; Alzohily, Bashar; Almesmari, Fatmah S A; Al Hammadi, Hamad; Al Dhahouri, Nahid; Irshaid, Manal; Kizhakkedath, Praseetha; Al Shibli, Fatema; Tabouni, Mohammed; Allam, Mushal; Baydoun, Ibrahim; Alblooshi, Hiba; Ali, Bassam R; Foo, Roger S; Al Jasmi, Fatma

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum

病例报告:与SLC30A9基因相关的Birk-Landau-Perez综合征——更多病例的发现及表型谱的扩展

Kizhakkedath, Praseetha; AlDhaheri, Watfa; Baydoun, Ibrahim; Tabouni, Mohammed; John, Anne; Almansoori, Taleb M; Al-Turki, Saeed; Al-Jasmi, Fatma; Alblooshi, Hiba

Stratified analyses of genome wide association study data reveal haplotypes for a candidate gene on chromosome 2 (KIAA1211L) is associated with opioid use in patients of Arabian descent

对全基因组关联研究数据的分层分析表明,2号染色体上候选基因(KIAA1211L)的单倍型与阿拉伯裔患者的阿片类药物使用相关。

Alblooshi, Hiba; Al Safar, Habiba; El Kashef, Ahmed; Al Ghaferi, Hamad; Shawky, Mansour; Hulse, Gary K; Tay, Guan K

The frequency of DRD2 rs1076560 and OPRM1 rs1799971 in substance use disorder patients from the United Arab Emirates

阿联酋物质使用障碍患者中DRD2 rs1076560和OPRM1 rs1799971的频率

Alblooshi, Hiba; Hulse, Gary; Osman, Wael; El Kashef, Ahmed; Shawky, Mansour; Al Ghaferi, Hamad; Al Safar, Habiba; Tay, Guan K