PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2017.22.2.90201722290Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disordersMaki Fukami, Mami Miyadohttps://synapse.koreamed.org/pdf/10.6065/apem.2017.22.2.90, https://synapse.koreamed.org/DOIx.php?id=10.6065/apem.2017.22.2.90, http://e-apem.org/upload/pdf/apem-22-90.pdf
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_4201751-69The Next Generation Sequencing Based Molecular Diagnosis of Visual DiseasesXia Wang, Richard Alan Lewishttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_4
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_6201789-112Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency DiseasesLijun Wang, C. Alexander Valencia, Rebecca A. Marsh, Kejian Zhanghttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_6
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_152017321-338Family-Based Next-Generation Sequencing AnalysisXia Wang, Linyan Meng, Magalie S. Leduchttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_15
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_120171-11Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic DisordersLee-Jun C. Wonghttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_1
10.21203/rs.3.rs-37764/v12020Validation of Next-Generation Sequencing and Array Comparative Genomic Hybridization for Diagnosis and Screening of Reciprocal and Robertsonian Translocations in Human BlastocystsShengrong Du, Yun-Hong Lin, Yan Sun, Qing-Fen Chen, Zhi-Qing Huang, Jing-Qian Su, Bei-Hong Zhenghttps://www.researchsquare.com/article/rs-37764/v1, https://www.researchsquare.com/article/rs-37764/v1.html
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_112017201-242Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin SecretionAmy E. Knight Johnson, Siri Atma W. Greeley, Daniela del Gaudiohttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_11
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_3201723-49Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic PathwaysElizabeth B. Gorman, Lee-Jun C. Wonghttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_3
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_72017113-121Next-Generation Sequencing Based Testing for Disorders of the SkeletonAllison Tam, Victor Wei Zhang, Lee Jun Wong, Sandesh C. S. Nagamanihttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_7
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders10.1007/978-3-319-56418-0_162017339-354Next Generation of Carrier ScreeningAnastasia Fedick, Jinglan Zhanghttp://link.springer.com/content/pdf/10.1007/978-3-319-56418-0_16