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Mutation detection

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, [ ... ], Carsten Bergmann

Evolution of BCR/ABL Gene Mutation in CML Is Time Dependent and Dependent on the Pressure Exerted by Tyrosine Kinase Inhibitor

Shantashri Vaidya, Babu Rao Vundinti, [ ... ], Kanjaksha Ghosh

Mutation Spectrum of RB1 Gene in Unilateral Retinoblastoma Cases from Tunisia and Correlations with Clinical Features

Hajer Ayari-Jeridi, Kimberly Moran, [ ... ], Arupa Ganguly

KRAS Mutation Analysis by PCR: A Comparison of Two Methods

Louise Bolton, Anne Reiman, [ ... ], Ian A. Cree

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo, Cristina Méndez-Vidal, [ ... ], Guillermo Antiñolo

An Integrative Analysis of PIK3CA Mutation, PTEN, and INPP4B Expression in Terms of Trastuzumab Efficacy in HER2-Positive Breast Cancer

Aiko Sueta, Yutaka Yamamoto, [ ... ], Hirotaka Iwase

Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome

Jiang Lin, Jing Yang, [ ... ], Jun Qian

Glucocerebrosidase Gene Mutations Associated with Parkinson's Disease: A Meta-Analysis in a Chinese population

Jia Chen, Wei Li, [ ... ], Zhi-qiang Xu

A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract

Yanan Zhu, Hao Yu, [ ... ], Ke Yao

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, [ ... ], Constantinos Deltas

Subgenotypes and Mutations in the S and Polymerase Genes of Hepatitis B Virus Carriers in the West Bank, Palestine

Zakeih Abdelnabi, Niveen Saleh, [ ... ], Maysa Azzeh

Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach

Lotte N. Moens, Elin Falk-Sörqvist, [ ... ], Mats Nilsson

High-Throughput Genome Editing and Phenotyping Facilitated by High Resolution Melting Curve Analysis

Holly R. Thomas, Stefanie M. Percival, Bradley K. Yoder, John M. Parant

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