Results 111 to 120 of about 129,319 (328)
Maximum a posteriori estimation of piecewise arcs in tempo time-series
, 2013 In musical performances with expressive tempo modulation, the tempo variation can be modelled as a sequence of tempo arcs. Previous authors have used this idea to estimate series of piecewise arc segments from data.
Chew, Elaine, Stowell, Dan
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart +5 more
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Antimicrobial Susceptibility Testing of Pneumococci: Determination of Kirby-Bauer Breakpoints for Penicillin G, Erythromycin, Clindamycin, Tetracycline, Chloramphenicol, and Rifampin [PDF]
, 1979 Michael R. Jacobs +4 more
openalex +1 more source
Breath‐holding and its breakpoint [PDF]
Experimental Physiology, 2005 This article reviews the basic properties of breath‐holding in humans and the possible causes of the breath at breakpoint. The simplest objective measure of breath‐holding is its duration, but even this is highly variable. Breath‐holding is a voluntary act, but normal subjects appear unable to breath‐hold to unconsciousness.
openaire +3 more sources
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
Determination of jet fuel thermal deposit rate using a modified JFTOT [PDF]
, 1980 Three fuels having different breakpoint temperatures were studied in the modified jet fuel thermal oxidation tester. The lower stability fuel with a breakpoint of 240 C was first stressed at a constant temperature.
Delfosse, R. J., Nowack, C. J.
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Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia [PDF]
, 1982 GW Dewald, RV Pierre, RL Phyliky
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens +9 more
wiley +1 more source
CNVbd: A Method for Copy Number Variation Detection and Boundary Search
MathematicsCopy number variation (CNV) has been increasingly recognized as a type of genomic/genetic variation that plays a critical role in driving human diseases and genomic diversity.
Jingfen Lan +5 more
doaj +1 more source