Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
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Published By Springer International Publishing

9783319564166, 9783319564180

Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_1 ◽

2017 ◽

pp. 1-11

Author(s):

Lee-Jun C. Wong

Keyword(s):

Next Generation Sequencing ◽

Clinical Utility ◽

Genetic Disorders ◽

Next Generation ◽

Human Genetic Disorders ◽

Generation Sequencing

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Family-Based Next-Generation Sequencing Analysis

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_15 ◽

2017 ◽

pp. 321-338

Author(s):

Xia Wang ◽

Linyan Meng ◽

Magalie S. Leduc

Keyword(s):

Next Generation Sequencing ◽

Sequencing Analysis ◽

Next Generation ◽

Next Generation Sequencing Analysis ◽

Family Based ◽

Generation Sequencing

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Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_8 ◽

2017 ◽

pp. 123-153

Author(s):

Holly LaDuca ◽

Shuwei Li ◽

A. J. Stuenkel ◽

Virginia Speare ◽

Jill S. Dolinsky ◽

...

Keyword(s):

Hereditary Cancer ◽

Cancer Susceptibility ◽

Panel Testing ◽

Multigene Panel Testing ◽

Multigene Panel

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Application of Next-Generation Sequencing in Noonan Spectrum Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_9 ◽

2017 ◽

pp. 155-176

Author(s):

Hui Mei ◽

Hongzheng Dai ◽

Jinglan Zhang ◽

Lee-Jun Wong ◽

Pilar L. Magoulas

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Spectrum Disorders ◽

Generation Sequencing

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Comprehensive Analyses of the Mitochondrial Genome

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_13 ◽

2017 ◽

pp. 287-304

Author(s):

Victor Wei Zhang ◽

Lee-Jun C. Wong

Keyword(s):

Mitochondrial Genome

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Erratum to: Application of Next-Generation Sequencing to Hearing Loss

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_17 ◽

2017 ◽

pp. E1-E1

Author(s):

Lisa Dyer ◽

Xinjian Wang ◽

Kejian Zhang ◽

John Greinwald ◽

C. Alexander Valencia

Keyword(s):

Hearing Loss ◽

Next Generation Sequencing ◽

Next Generation ◽

Generation Sequencing

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Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_3 ◽

2017 ◽

pp. 23-49

Author(s):

Elizabeth B. Gorman ◽

Lee-Jun C. Wong

Keyword(s):

Next Generation Sequencing ◽

Metabolic Pathways ◽

Panel Analysis ◽

Next Generation ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

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Next-Generation Sequencing Based Testing for Disorders of the Skeleton

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_7 ◽

2017 ◽

pp. 113-121

Author(s):

Allison Tam ◽

Victor Wei Zhang ◽

Lee Jun Wong ◽

Sandesh C. S. Nagamani

Keyword(s):

Next Generation Sequencing ◽

Next Generation ◽

Generation Sequencing

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Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_6 ◽

2017 ◽

pp. 89-112

Author(s):

Lijun Wang ◽

C. Alexander Valencia ◽

Rebecca A. Marsh ◽

Kejian Zhang

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Molecular Diagnosis ◽

Next Generation ◽

Primary Immunodeficiency Diseases ◽

Immunodeficiency Diseases ◽

Generation Sequencing

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Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders ◽

10.1007/978-3-319-56418-0_12 ◽

2017 ◽

pp. 243-286

Author(s):

Guoliang Wang ◽

Vivan Niewiadonski ◽

Jianping Li ◽

Ruirui Ji ◽

Wenxin Zou ◽

...

Keyword(s):

Genetic Diseases

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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic DisordersLatest Publications

TOTAL DOCUMENTS

H-INDEX

Published By Springer International Publishing

Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Family-Based Next-Generation Sequencing Analysis

Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

Application of Next-Generation Sequencing in Noonan Spectrum Disorders

Comprehensive Analyses of the Mitochondrial Genome

Erratum to: Application of Next-Generation Sequencing to Hearing Loss

Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways

Next-Generation Sequencing Based Testing for Disorders of the Skeleton

Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases

Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Latest Publications