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

Determination of mean corpuscular haemoglobin cut-off point for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening

地中海贫血筛查中区分α+型和α0型地中海贫血的平均红细胞血红蛋白临界值的确定

Esa, Ezalia; Mohd Pauzy, Lailatul Hadziyah; Hashim, Hafizah; Md Nor, Azian Naila; Mohd Sahid, Ermi Neiza; Mat Yusoff, Yuslina; Aziz, Nur Aisyah; Abdul Hamid, Faidatul Syazlin; Hassan, Syahzuwan; Mohammad Salleh, Wahyuni Sofia Foo; Zulkefli, Ezzanie Suffya; Mohd Yasin, Norafiza

ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease

基于ACMG/AMP的变异分类,对一种新型HBA2变异(HBA2: C.297del,Hb Taiping)与Hb Adana(HBA2: C.179G>A)复合杂合,导致非缺失型Hb H病。

Yasin, Norafiza Mohd; Somasundram, Suguna; Hassan, Syahzuwan; Aziz, Nur Aisyah; Hamid, Faidatul Syazlin Abdul; Zulkefli, Ezzanie Suffya; Mohamad, Nor Nazuha; Lee, Chin Ming; Darawi, Mohd Nazif; Papasavva, Thessalia; Stephanou, Coralea; Kountouris, Petros; Arkesteijn, Sandra J G; Koopman, Tamara; Harteveld, Cornelis L

The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.

缺失α2-珠蛋白基因多聚腺苷酸化信号序列(AATAAA > AATA--)[HBA2:c.*93_*94delAA]的临床和实验室特征:马来西亚的经验

Yasin Norafiza Mohd, Hassan Syahzuwan, Aziz Nur Aisyah, Abdul Hamid Faidatul Syazlin, Esa Ezalia, Zulkefli Ezzanie Suffya, Ghazali Rohana, Tajuddin Syirah Nazirah, Darawi Mohd Nazif, Yusoff Yuslina Mat, Harteveld Cornelis L

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis

罕见的血红蛋白vancleave基因与严重β-地中海贫血突变同时遗传于一名继发性红细胞增多症患者。

Aziz, Nur Aisyah; Musa, Nurul Hidayah; Mathews, Melina; Rajenderan, Komalah Thevii; Abdul Hamid, Faidatul Syazlin; Hassan, Syahzuwan; Omar, Syahira Lazira; Wan Yusoff, Wan Nurul Afiqha Binti; Mohd Din, Melanie Ling Binti; Jamaludin, Nurul Amira Binti; Wan Taib, Wan Rohani; Esa, Ezalia; Mohd Yasin, Norafiza

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia

下一代测序 (NGS) 和第三代测序 (TGS) 在地中海贫血诊断中的应用

Hassan, Syahzuwan; Bahar, Rosnah; Johan, Muhammad Farid; Mohamed Hashim, Ezzeddin Kamil; Abdullah, Wan Zaidah; Esa, Ezalia; Abdul Hamid, Faidatul Syazlin; Zulkafli, Zefarina