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Mutation detection

Comprehensive methodology for sample enrichment in EEG biomarker studies for Alzheimer’s risk classification

Verónica Henao Isaza, David Aguillon, Carlos Andrés Tobón-Quintero, Francisco Lopera, John Fredy Ochoa-Gómez

published 11 Mar 2026

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Genetic variations and clinical implications of B-thalassemia in Iraqi population

Ayman Ziadoon Jawad, Meryam Chelly, Salah Hashim AL-Zuhairy, Hanen Bouaziz

published 04 Mar 2026

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Distinct mutational landscapes and phylogenomic insights of the SARS-CoV-2 delta variant in Pakistan and India: Regional evolution, novel mutations, and epidemiological implications

Nazia Fiaz, Atia Basheer, Imran Zahoor, Saima Naveed, Tahir Yaqub

published 27 Feb 2026

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Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487)

Benhong Ren, Yazhen Wu, Wenyuan Gan, Qingping Zhang, Dandan Yang, Wenjun Cao, Xiaoli Zhang, Yuan Jiang, Ying Zhang, Bin Guo, Yongxia Tie, Jiannan Liu, Guilan Cai, Yi Wang, Yanyan Ma

published 24 Feb 2026

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Choosing the best route: Comparative optimization of wheat transformation methods for improving yield by targeting TaARE1-D with CRISPR/Cas9

Mumin Ibrahim Tek, Kubra Budak Tek, Pelin Sarikaya, Abdul Razak Ahmed, Hakan Fidan

published 09 Feb 2026

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Association analysis of Mycoplasma pneumoniae 23S rRNA gene mutation with refractory Mycoplasma pneumoniae pneumonia in children

Wen Li, Wei Gao, Xiaoyu Xiong, Xuan Tang, Aimin Li

published 29 Jan 2026

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Analytical validation of a hybrid-approach combining tumor-informed and tumor-agnostic bespoke ctDNA panel assay for the sensitive detection of minimal residual disease

Sunghoon Heo, Seon-Kyu Ham, Hayoon Lee, Bom Han, Hanseong Roh, Seongmun Jeong, Hwang-Phill Kim, Duhee Bang, Sang-Hyun Song, Tae-You Kim

published 10 Nov 2025

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Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

Torin Abdulaziz Sadoon, Hemin Esmael Othman

published 07 Nov 2025

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Integrating genomic epidemiology and deep mutational scanning data for prevalence forecasting of SARS-CoV-2 Omicron lineages

Zhong-yi Lei, Xiao-min Zhang, Jia-lu Han, Ji-guo Xue, Jia-yi Xu, Zi-lin Ren, Yi-gang Tong, Xiao-chen Bo, Ming Ni

published 03 Nov 2025

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HLF gene is a poor prognostic factor in acute myeloid leukemia patients with FLT3-ITD/NPM1 mutations undergoing hematopoietic transplantation

Xiaoyu Xu, Xinxin Ge, Airui Jiang, Jia Chen, Qiaocheng Qiu, Zixuan Ding, Mingqing Zhu, Jinlan Pan, Zixing Chen, Wenwen Du, Depei Wu, Suning Chen, Hongjie Shen

published 14 Oct 2025

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G6PD deficiency in Malaysia’s Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study

Mohamed Afiq Hidayat Zailani, Raja Zahratul Azma Raja Sabudin, Muhammad-Redha Abdullah-Zawawi, Azlin Ithnin, Hafiza Alauddin, Siti Aishah Sulaiman, Najiah Ajlaa Ayub, Rinie Awai@Albert, Muhammad Dinie Afif Jamaludin, Muhammad Ziqrill Mohd Zapri, Ainoon Othman

published 10 Oct 2025

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Identification of coexisting Mfrp^rd6 and Pde6b^rd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice

Asaka Lee Shiozawa, Maika Hosoi Kobayashi, Yusuke Shiozawa, Yasuhiro Ikeda, Yoshitaka Miyagawa, Fumiki Okamoto, Mashito Sakai, Takashi Okada, Tsutomu Igarashi

published 23 Sep 2025

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Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand

Supat Chamnanchanunt, Beatriz Aira C. Jacob, Vipa Thanachartwet, Varunee Desakorn, Natsamon Singha-art, Duangjai Sahassananda, Kamonwan Chamchoy, Naveen Eugene Louis, Muawiaa Ahmed Hamza, Nurriza Ab Latif, Syazwani Itri Amran, Henry A. F. Stephens, Wang Nguitragool, Usa Boonyuen

published 18 Sep 2025

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