Vol. 7 No. 4 (2014)

Published: 2014-10-26

Review

The Application of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong

Christopher CY Mak, MBChB CY Mak, Dingge Ying, Brian HY Chung
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RNA Sequencing and its Applications in Cancer Diagnosis and Targeted Therapy

Mimi Wan, Jianhui Wang
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Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations

Deqiong Ma, Bixia Xiang
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Microarray Reporting: Balancing Laboratory Findings, Clinical Utility and Patient Anxiety

Li E. Cheng, Arun Wiita, Jingwei Yu Yu
- PDF
The AApplication of Whole-Exome Sequencing in Diagnosing Pediatric Rare Disease in Hong Kong

Christopher CY Mak, Brian HY Chung
- HTML
- HTML

Case Report

A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant

Deling Li, Yao-Shan Fan
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Prenatal Diagnosis of Xq26.1-q26.3 Duplication in Two Fetuses of a Woman with Gonadal Mosaicism

Fang Xu, Stacy Cook
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Communication

A Pilot Study of Next-Generation Sequencing on Cell-Free DNA from Blood Plasma and Bone Marrow Fluid for Detecting Leukemic Clonal Abnormalities

Qinghua Zhou, Zongzhi Liu
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Improving Quality of Genetic Testing through Participation in International Proficiency Testing Programs

Lin Zou, Liming Bao, Jingkun Miao
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Tertiary Education System for Genetic Technologists, Counselors and Specialists

Peining Li, Katherine Wilcox, Peter C Hu
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On the Globalization and Standardization of Medical Genetics and Genomics as Clinical and Laboratory Specialties

Hui Zhang, Peining Li
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Commentary

Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?

Xuezhong Liu, Anne Chun-Hui Tsai
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