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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, [ ... ], John Fredy Ochoa-Gómez

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

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

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, [ ... ], Tahir Yaqub

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, [ ... ], Yanyan Ma

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, [ ... ], Hakan Fidan

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

Wen Li, Wei Gao, [ ... ], Aimin Li

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, [ ... ], Tae-You Kim

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

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

Zhong-yi Lei, Xiao-min Zhang, [ ... ], Ming Ni

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

Xiaoyu Xu, Xinxin Ge, [ ... ], Hongjie Shen

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, [ ... ], Ainoon Othman

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

Asaka Lee Shiozawa, Maika Hosoi Kobayashi, [ ... ], Tsutomu Igarashi

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, [ ... ], Usa Boonyuen

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