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Mutation

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

John P. Grady, Julie L. Murphy, [ ... ], Helen A. L. Tuppen

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, [ ... ], Ping Wang

A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, [ ... ], Chiea Chuen Khor

Molecular Characterization of an Intact p53 Pathway Subtype in High-Grade Serous Ovarian Cancer

Takahide Hayano, Yuki Yokota, [ ... ], Ituro Inoue

Using a PyMOL Activity to Reinforce the Connection between Genotype and Phenotype in an Undergraduate Genetics Laboratory

Alexandra D. Simmons, Thao K. T. Nguyen, Jack L. Follis, Albert Ribes-Zamora

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, [ ... ], Jiansheng Xie

TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, [ ... ], Murali Dharan Bashyam

A Genomic Instability Score in Discriminating Nonequivalent Outcomes of BRCA1/2 Mutations and in Predicting Outcomes of Ovarian Cancer Treated with Platinum-Based Chemotherapy

Shaojun Zhang, Yuan Yuan, Dapeng Hao

Inhibition of Aurora Kinase B Is Important for Biologic Activity of the Dual Inhibitors of BCR-ABL and Aurora Kinases R763/AS703569 and PHA-739358 in BCR-ABL Transformed Cells

Anna L. Illert, Anna K. Seitz, [ ... ], Nikolas von Bubnoff

The Evolutionary Fate of the Horizontally Transferred Agrobacterial Mikimopine Synthase Gene in the Genera Nicotiana and Linaria

Viera Kovacova, Jitka Zluvova, [ ... ], Boris Vyskot

Role of Ca²⁺ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

Chen Zhang, Nagaraju Mulpuri, [ ... ], Jenny J. Yang

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, [ ... ], Stylianos E. Antonarakis

Strand Invasion Based Amplification (SIBA®): A Novel Isothermal DNA Amplification Technology Demonstrating High Specificity and Sensitivity for a Single Molecule of Target Analyte

Mark J. Hoser, Hannu K. Mansukoski, Scott W. Morrical, Kevin E. Eboigbodin

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