Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil [PDF]
BMC Medical Genomics, 2019 Background Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations.
Tiago Fernando Chaves +8 more
doaj +2 more sources
Lista de encabezamientos de materia de la Biblioteca del Congreso de los Estados Unidos: características generales [PDF]
Información, Cultura y Sociedad, 2005 El presente artículo describe los aspectos históricos y las bases sobre las que se constituyeron los Library of Congress Subject Headings (LCSH).
Gerardo Salta +2 more
doaj +4 more sources
A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD [PDF]
Scientific ReportsChromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3–4% of ...
Tiago Fernando Chaves +8 more
doaj +2 more sources
Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. [PDF]
Mol Cytogenet, 2015 BACKGROUND: Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity),
Iourov IY +4 more
europepmc +2 more sources
Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm [PDF]
BMC Nephrology, 2019 Background Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin ...
Kushani Jayasinghe +8 more
doaj +2 more sources
Geocoding LCSH in the Biodiversity Heritage Library
Code4Lib Journal, 2008 Reusing metadata generated through years of cataloging practice is a natural and pragmatic way of leveraging an institution's investment in describing its resources.
Marc Crozier +3 more
doaj +1 more source
Facet-Based Search and Navigation With LCSH: Problems and Opportunities
Code4Lib Journal, 2007 Facet-based interfaces demonstrate some limitations of Library of Congress Subject Headings (LCSH), which were designed to deal with constraints that do not exist in the current computerized environment.
Kelley McGrath
doaj +1 more source
The Overlap of the Keywords of Scientometrics Journal Articles with Bibsonomy Tags and Accepted Descriptions in the Library of Congress Subject Headings [PDF]
کتابداری و اطلاعرسانی, 2022 Objective: The purpose of this paper was to investigate the rate of keywords overlapping in the articles with Bibsonomy labels and accepted descriptors in the Library of Congress Subject Headings (LCSH) in the Scientometrics journals.Methodology: This ...
Ziba Noei, Saeed Rezaei Sharifabadi
doaj +1 more source
Fully Dynamic Connectivity in $O(\log n(\log\log n)^2)$ Amortized Expected Time [PDF]
, 2023 Dynamic connectivity is one of the most fundamental problems in dynamic graph algorithms. We present a randomized Las Vegas dynamic connectivity data structure with $O(\log n(\log\log n)^2)$ amortized expected update time and $O(\log n/\log\log\log n ...
Huang, Dawei +4 more
core +2 more sources
Metabolisable Energy, Rumen Degradation and Fermentation Characteristics of Linted Cottonseed Hulls, Delinted Cottonseed Hulls and Cottonseed Linter Residue [PDF]
Asian-Australasian Journal of Animal Sciences, 2012 Dietary supplementation with conventional linted cottonseed hulls (LCSH) is a common practice in livestock production all over the world. However, supplementation with mechanically delinted cottonseed hulls (DCSH) and cottonseed linter residue (CLR) is ...
Y. K. Bo +5 more
doaj +1 more source