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Sociology of work --- Employers and workers organisations --- gender --- 331.881 CNV (492) --- 331.881 FNV (492) --- 331-055.2 --- 341.232 --- Christelijk Nationaal Vakverbond - CNV --- Federatie Nederlandse Vakbeweging - FNV --- arbeid van vrouwen - vrouwelijke arbeiders - werkende vrouwen - buitenhuiswerkende vrouwen - gelijke behandeling van man en vrouw --- hulp aan ontwikkelingslanden - ontwikkelingshulp - Lomé - Noord-Zuid dialoog - Unctad - Unido - derde wereld

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Labor unions --- 331.88 (091) --- 331.881 CNV (492) --- P492 --- #SBIB:316.334.2A415 --- Nederland (492) --- Werknemersorganisaties 331.105.44 --- 331.105 <082> --- 331.105 <082> Verhouding wergevers-werknemers. Industrial relations. Arbeidsverhoudingen--z.o. {658.31}--Feestbundels. Festschriften --- Verhouding wergevers-werknemers. Industrial relations. Arbeidsverhoudingen--z.o. {658.31}--Feestbundels. Festschriften --- Industrial unions --- Labor, Organized --- Labor organizations --- Organized labor --- Trade-unions --- Unions, Labor --- Unions, Trade --- Working-men's associations --- Labor movement --- Societies --- Central labor councils --- Guilds --- Syndicalism --- History --- arbeidersbeweging, geschiedenis --- Christelijk Nationaal Vakverbond - CNV --- Nederland --- Arbeidssociologie: Nederlandse vakbeweging --- Meulen, Harm van der. --- Van der Meulen, Harm --- Christelijk Nationaal Vakverbond in Nederland. --- CNV --- Christian Trade Union Confederation --- Christian National Trade Union Confederation --- Sociology of work --- Employers and workers organisations

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This volume offers detailed step-by-step instructions to allow beginners and experts alike to run appropriate copy number variants (CNV) detection software on a dataset of choice and discern between false positive noise and true positive CNV signals. Chapters guide readers through single nucleotide polymorphism (SNP) chips, optical mapping assembly techniques, and current open-source programs specializing in CNV detection. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Copy Number Variants: Methods and Protocols aims to provide guidance to Bioinformaticians and Molecular Biologists who are interested in identifying copy number variants (CNV) with a wide variety of experimental media.

Bioinformatics. --- Bio-informatics --- Biological informatics --- Biology --- Information science --- Computational biology --- Systems biology --- Data processing --- Bioinformàtica --- Biologia molecular --- Variació en el nombre de còpies --- Manuals de laboratori --- Biofísica molecular --- Bioquímica molecular --- Biofísica --- Bioquímica --- Histoquímica --- Biologia molecular vegetal --- Codi genètic --- Diagnòstic molecular --- Endocrinologia molecular --- Evolució molecular --- Farmacologia molecular --- Genètica molecular --- Glicòmica --- Metabolòmica --- Microbiologia molecular --- Neurobiologia molecular --- Patologia molecular --- Proteòmica --- Reconeixement molecular --- Biomolècules --- Informàtica biològica --- Ciències de la informació --- Biologia computacional --- Tècniques de laboratori --- CNV (Genètica) --- Variació (Biologia)

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome

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Omics technologies such as proteomics, genomics, and metabolomics are widely applied for the identification and characterization of new molecular signatures. However, molecular profiling that makes it possible to understand neurodegenerative diseases has been relatively insufficient. Brain diseases such as neurodegenerative diseases and emotional disorders need integrative understanding which draws on a more reliable hypothesis for pathology, which can be accomplished via in-depth study of molecular information. Recently, multi-omics technologies have been eagerly applied to a diverse range of diseases. As this includes multiple molecular profiling, metadata, and Big Data processing with informatics and computer science, it is possible to provide new macroscopic and microscopic insights in order to better understand diseases. This Special Issue will introduce recent technological advances in multi-omics and the application of omics technology to brain diseases.

Research & information: general --- schizophrenia --- abnormal behavior gene set --- region --- differentially expressed genes --- de novo mutation --- copy number variant --- SIDS --- newborn infant --- genetic polymorphism --- neurotransmitter --- epigenetics --- epigenome --- zinc finger domain --- zinc finger motif --- zinc finger proteins --- zinc metalloproteins --- flow infusion analysis --- chloride adducts --- ceramides --- sphingolipids --- glycerophosphocholines --- human brain --- NAD+ --- nicotinamide --- ageing --- plasma --- biomarker --- CNV --- PPI --- spatiotemporal network --- chromosome 22q11.21 --- DGCR8 --- Orthosiphon stamineus --- plant-derived proteins --- neuroprotective --- SH-SY5Y cell model --- hydrogen peroxide --- CSF --- miRNAs --- neurological diseases --- OpenArray --- morphine --- withdrawal --- brain --- proteomics --- synaptic plasticity --- Alzheimer’s disease --- microfluidics --- lab-on-chip --- 3D culture --- organ-on-chip --- n/a --- Alzheimer's disease