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  • 1
    Keywords: Medicine ; Human Genetics ; Biomedicine ; Human Genetics ; Molecular Medicine ; Biomedicine general ; Springer eBooks
    Description / Table of Contents: Part 1: Overview -- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders -- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders -- Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity -- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions -- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease -- Deoxyguanosine Kinase -- 〈i〉MPV17〈/i〉-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome -- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1) -- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability -- Depletion of mtDNA with MMA: 〈i〉SUCLA2〈/i〉 and 〈i〉SUCLG1〈/i〉 -- 〈i〉RRM2B〈/i〉-Related Mitochondrial Disease -- Part 3: Complex Subunits and Assembly Genes -- Complex Subunits and Assembly Genes: Complex I -- Mitochondrial Respiratory Chain Complex II -- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models -- Mitochondrial Cytochrome 〈i〉c〈/i〉 Oxidase Assembly in Health and Human Diseases -- Part 4: Mitochondrial Protein Translation Related Diseases -- Mitochondrial Aminoacyl-tRNA Synthetases -- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors -- Disorders of Mitochondrial RNA Modification -- Part 5: Others -- Pyruvate Dehydrogenase Complex Deficiencies.-〈b〉 〈/b〉Nuclear Genes Causing Mitochondrial Cardiomyopathy -- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins -- Index
    Abstract: Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.℗ In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.℗ Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. 〈i〉Mitochondrial Disorders Caused by Nuclear Genes 〈/i〉discusses the〈i〉 〈/i〉biochemical, molecular, clinical, and genetic aspects〈i〉 〈/i〉of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases
    Pages: XII, 369 p. 32 illus., 20 illus. in color. : digital.
    ISBN: 9781461437222
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  • 2
    Keywords: Medicine ; Human Genetics ; Bioinformatics ; Biomedicine ; Human Genetics ; Bioinformatics ; Biomedicine general ; Springer eBooks
    Description / Table of Contents: 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
    Abstract: In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.℗ ℗ Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences.℗ This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders.℗ This book covers topics of these applications, including potential limitations and expanded application in the future.℗ ℗ ℗ ℗
    Pages: : digital.
    ISBN: 9781461470014
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  • 3
    Unknown
    Hoboken, NJ : Wiley
    Call number: C060:42
    Keywords: Optimal designs (Statistics) ; Experimental design
    Pages: xxv, 285 p. : ill.
    ISBN: 0470856971
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    C060:42 departmental collection or stack – please contact the library
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  • 4
    Call number: ALLG-BERUF-PN4121:10 ; W110:9
    Keywords: Business presentations
    Notes: Transl. of: Guide to information graphics.
    Pages: 156 p. : ill.
    ISBN: 9783868812770
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    ALLG-BERUF-PN4121:10 available
    W110:9 departmental collection or stack – please contact the library
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  • 5
    Keywords: Medicine ; Toxicology ; Pharmacy ; Biochemistry ; Biomedicine ; Pharmacology/Toxicology ; Pharmacy ; Biochemistry, general ; Springer eBooks
    Pages: : digital
    ISBN: 9781441956293
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  • 6
    Call number: QZ200:504
    Pages: xix, 180 p. : ill.
    ISBN: 9780387693200
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    QZ200:504 available
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  • 7
    Keywords: Medicine ; Human Physiology ; Neurosciences ; Radiology, Medical ; Biochemistry ; Biomedicine ; Neurosciences ; Biophysics and Biological Physics ; Medical Biochemistry ; Human Physiology ; Neuroradiology ; Imaging / Radiology ; Springer eBooks
    Pages: : digital
    ISBN: 9781441974099
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