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02558nam a22003255i 4500 |
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20210604134628.0 |
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cr nn 008mamaa |
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130531s2013 xxu| s |||| 0|eng d |
| 020 |
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|a 9781461470014
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| 024 |
7 |
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|a 10.1007/978-1-4614-7001-4
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
1 |
0 |
|a Next Generation Sequencing :
|b Translation to Clinical Diagnostics /
|c edited by Lee-Jun C. Wong.
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| 250 |
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|a 1st ed. 2013.
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| 260 |
# |
# |
|a New York, NY :
|b Springer New York :
|b Imprint: Springer,
|c 2013.
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| 300 |
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|a XI, 302 p. :
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 505 |
0 |
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|a Part I: Overview.- History of DNA Sequencing Technologies -- Clinical Molecular Diagnostic Techniques: A Brief Review -- Part II: The Technologies and Bioinformatics -- Methods of Gene Enrichment and Massively Parallel Sequencing Technologies -- Sequence Alignment, Analysis, and Bioinformatics Pipelines -- Protein Structural Based Analysis for Variant Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example -- Algorithms and Guidelines for Interpretation of DNA Variants -- Part III: Application to Clinical Diagnostics -- NGS-based Clinical Diagnosis of Genetically Heterogeneous Disorders -- Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG) -- NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID) -- NGS Analysis of Heterogeneous Retinitis Pigmentosa -- Next Generation Sequencing of the Whole Mitochondrial Genome -- Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders -- Noninvasive Prenatal Diagnosis Using Next Generation Sequencing -- Part IV: Compliance with CAP/CLIA Regulations -- Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance -- Validation of NGS-based Test and Implementation of Quality Control Procedures -- Frequently Asked Questions about the Clinical Utility of Next Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases -- Index.
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| 650 |
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0 |
|a Human genetics.
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| 650 |
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0 |
|a Bioinformatics.
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| 650 |
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0 |
|a Medicine.
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| 650 |
1 |
4 |
|a Human Genetics.
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| 650 |
2 |
4 |
|a Bioinformatics.
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| 650 |
2 |
4 |
|a Biomedicine, general.
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| 700 |
1 |
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|a Wong, Lee-Jun C.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 900 |
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|a Libro descargado a ALEPH en bloque (proveniente de proveedor)
|