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Mutation detection

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents

Nidaa A. Ababneh, Dema Ali, [ ... ], Abdalla Awidi

Pre-treatment drug resistance and HIV-1 genetic diversity in the rural and urban settings of Northwest-Cameroon

Joseph Fokam, Desire Takou, [ ... ], Alexis Ndjolo

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

Pre-existing minor variants with NS5A L31M/V-Y93H double substitution are closely linked to virologic failure with asunaprevir plus daclatasvir treatment for genotype 1b hepatitis C virus infection

Naoki Morishita, Ryotaro Sakamori, [ ... ], Tetsuo Takehara

A novel sensitive detection method for DNA methylation in circulating free DNA of pancreatic cancer

Keiko Shinjo, Kazuo Hara, [ ... ], Yutaka Kondo

Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain

Melanie Y. Pullen, Conrad C. Weihl, Heather L. True

Clinical evaluation of a non-purified direct molecular assay for the detection of Clostridioides difficile toxin genes in stool specimens

Toshinori Hara, Hiromichi Suzuki, [ ... ], Hiroki Ohge

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression

Richa Singh, Shreya Das, [ ... ], Bidyut Roy

High prevalence of phenotypic pyrazinamide resistance and its association with pncA gene mutations in Mycobacterium tuberculosis isolates from Uganda

Resty Naluyange, Gerald Mboowa, [ ... ], Willy Ssengooba

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, [ ... ], Xiaoliu Shi

Detection of drug resistant Mycobacterium tuberculosis by high-throughput sequencing of DNA isolated from acid fast bacilli smears

Mazhgan Rowneki, Naomi Aronson, [ ... ], David Alland

Liquid biopsy-based tumor profiling for metastatic colorectal cancer patients with ultra-deep targeted sequencing

Jun-Kyu Kang, Sunghoon Heo, [ ... ], Tae-You Kim

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

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