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Mutation

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, [ ... ], Sang-Hak Lee

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, [ ... ], Zhaoxin Ma

Structure Based In Silico Analysis of Quinolone Resistance in Clinical Isolates of Salmonella Typhi from India

Manoj Kumar, Sushila Dahiya, [ ... ], Punit Kaur

Atypical Role for PhoU in Mutagenic Break Repair under Stress in Escherichia coli

Janet L. Gibson, Mary-Jane Lombardo, [ ... ], Susan M. Rosenberg

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

Claire Rochette, Nicolas Jullien, [ ... ], Frederic Castinetti

Deregulation of Genes Related to Iron and Mitochondrial Metabolism in Refractory Anemia with Ring Sideroblasts

Mónica del Rey, Rocío Benito, [ ... ], Jesús M. Hernández-Rivas

Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep

Aroa Suárez-Vega, Beatriz Gutiérrez-Gil, [ ... ], Juan José Arranz

Endothelin Receptor B2 (EDNRB2) Gene Is Associated with Spot Plumage Pattern in Domestic Ducks (Anas platyrhynchos)

Ling Li, Dan Li, [ ... ], Yanzhang Gong

Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2

Anna-Lena Volckmar, Jie-Yun Song, [ ... ], Anke Hinney

Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models

Kirsi Penttinen, Heikki Swan, [ ... ], Katriina Aalto-Setälä

Impact of Smoking and Brain Metastasis on Outcomes of Advanced EGFR Mutation Lung Adenocarcinoma Patients Treated with First Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors

Amit Jain, Cindy Lim, [ ... ], Daniel Shao Weng Tan

Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

Kazuko Sakai, Junji Tsurutani, [ ... ], Kazuto Nishio

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

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