NAJMS 2014, 7 (4)

October, 2014
Volume: 7    Issue: 4

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Original Articles
The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong
Christopher CY Mak, MBChB; Dingge Ying, PhD; Ka Chun Leung, BSc, MPhil; Pamela PW Lee, MBBS; Jing Yang,PhD; Wanling Yang, PhD; Brian HY Chung, MBBS, FCCMG; Yu-Lung Lau, MD
Challenges in Prenatal Cytogenomic Microarray Reporting: Balancing Laboratory Findings, Clinical Utility and Patient Anxiety
Li E. Cheng, PhD; Arun Wiita, MD, PhD; Zhongxia Qi, PhD; Jingwei Yu, MMed, PhD
RNA Sequencing and its Applications in Cancer Diagnosis and Targeted Therapy
Mimi Wan, MD, PhD; Jianhui Wang, PhD; Xiaobin Gao, MPh; Jeffery Sklar, MD, PhD
Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations
Bixia Xiang, PhD; Fang Xu, PhD; Wenqi Zeng, MD, PhD; Dan Zi, MD; Deqiong Ma, MD, PhD
A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant
Deling Li, MD, PhD; Olaf A Bodamer, MD, PhD; Yao-Shan Fan, MD, PhD