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Point mutation

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar, Kalpana Athimoolam, [ ... ], Lakshmi Bremadesam Raman

Intragenic suppressor mutations of the COQ8 protein kinase homolog restore coenzyme Q biosynthesis and function in Saccharomyces cerevisiae

Agape M. Awad, Anish Nag, [ ... ], Catherine F. Clarke

Linezolid-resistant Enterococcus faecium strains isolated from one hospital in Poland –commensals or hospital-adapted pathogens?

Beata Krawczyk, Magdalena Wysocka, [ ... ], Alfred Samet

The role of the C₂A domain of synaptotagmin 1 in asynchronous neurotransmitter release

Mallory C. Shields, Matthew R. Bowers, [ ... ], Noreen E. Reist

Genetic algorithm-based personalized models of human cardiac action potential

Dmitrii Smirnov, Andrey Pikunov, [ ... ], Igor R. Efimov

Adapting Biased Gene Conversion theory to account for intensive GC-content deterioration in the human genome by novel mutations

Rajan Paudel, Larisa Fedorova, Alexei Fedorov

Functional efficiency of PCR vectors in vitro and at the organism level

Dina R. Safina, Polina I. Selina, [ ... ], Sergey V. Kostrov

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Xue Feng, Tianying Wei, [ ... ], Yinghui Ye

Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments

Diana Cimiotti, Setsuko Fujita-Becker, [ ... ], Kornelia Jaquet

HLA class I restricted epitopes prediction of common tumor antigens in white and East Asian populations: Implication on antigen selection for cancer vaccine design

Wei Hu, Meifang He, Liangping Li

Antibacterial activity of novel dual bacterial DNA type II topoisomerase inhibitors

Noemi D’Atanasio, Alessandra Capezzone de Joannon, [ ... ], Serena Tongiani

Novel EGFR ectodomain mutations associated with ligand-independent activation and cetuximab resistance in head and neck cancer

Sindhu Nair, Hoa Q. Trummell, [ ... ], Markus Bredel

Clinical significance of EGFR mutation types in lung adenocarcinoma: A multi-centre Korean study

Hee-Young Yoon, Jeong-Seon Ryu, [ ... ], Jung Hyun Chang

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