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Dideoxy DNA sequencing

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Chrysanthia A. Leontiou, Michael D. Hadjidaniel, [ ... ], Philippos C. Patsalis

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, [ ... ], Shusen Zheng

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

Joakim Crona, Viktor Ljungström, [ ... ], Peyman Björklund

Comprehensive Molecular Profiling of Archival Bone Marrow Trephines Using a Commercially Available Leukemia Panel and Semiconductor-Based Targeted Resequencing

Stephan Bartels, Elisa Schipper, Hans Heinrich Kreipe, Ulrich Lehmann

Implementation of Cell Samples as Controls in National Proficiency Testing for Clopidogrel Therapy-Related CYP2C19 Genotyping in China: A Novel Approach

Guigao Lin, Lang Yi, [ ... ], Jinming Li

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, [ ... ], Carmen Ayuso

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, [ ... ], Qingjiong Zhang

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

Donna S. Mackay, Thomas M. Bennett, Alan Shiels

Next-Generation Sequencing Techniques Reveal that Genomic Imprinting Is Absent in Day-Old Gallus gallus domesticus Brains

Qiong Wang, Kaiyang Li, [ ... ], Lujiang Qu

Analytical Validation of AmpliChip p53 Research Test for Archival Human Ovarian FFPE Sections

Matthew J. Marton, Andrew R. McNamara, [ ... ], Jonathan Cheng

Deep Sequencing Analysis of HBV Genotype Shift and Correlation with Antiviral Efficiency during Adefovir Dipivoxil Therapy

Yuwei Wang, Xuefeng Shan, [ ... ], Ailong Huang

Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Joo Hyung Han, Seung Kim, [ ... ], Ji Hyun Lee

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, [ ... ], Edgar A. Otto

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