Results 121 to 130 of about 260,369 (317)

Polymorphism clones of homogeneous structures (Universal homogeneous polymorphisms and automatic homeomorphicity) [PDF]

open access: yesarXiv, 2015
Every clone of functions comes naturally equipped with a topology---the topology of pointwise convergence. A clone $\mathfrak{C}$ is said to have automatic homeomorphicity with respect to a class $\mathcal{C}$ of clones, if every clone-isomorphism of $\mathfrak{C}$ to a member of $\mathcal{C}$ is already a homeomorphism (with respect to the topology of
arxiv  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Unifying genetic association tests via regression: Prospective and retrospective, parametric and nonparametric, and genotype‐ and allele‐based tests

open access: yesCanadian Journal of Statistics, Volume 50, Issue 4, Page 1321-1338, December 2022., 2022
Abstract Genetic association analysis, which evaluates relationships between genetic markers and complex, heritable traits, is the basis of genome‐wide association studies. The many association tests that have been developed can generally be classified as prospective versus retrospective, parametric versus nonparametric, and genotype‐ versus allele ...
Lin Zhang, Lei Sun
wiley   +1 more source

Epitaxial stabilization and phase instability of VO2 polymorphs [PDF]

open access: yesarXiv, 2015
The VO2 polymorphs, i.e., VO2(A), VO2(B), VO2(M1) and VO2(R), have a wide spectrum of functionalities useful for many potential applications in information and energy technologies. However, synthesis of phase pure materials, especially in thin film forms, has been a challenging task due to the fact that the VO2 polymorphs are closely related to each ...
arxiv  

A single nucleotide polymorphism in exon 1 of cytotoxic T-lymphocyte-associated-4 (CTLA-4) is not associated with rheumatoid arthritis [PDF]

open access: bronze, 2000
Anne Barton   +5 more
openalex   +1 more source

Development of a single‐nucleotide polymorphism panel genotyping system for genetic analysis of Chinese hamsters

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Here, we developed a novel Chinese hamster genetic quality detection system using single‐nucleotide polymorphism (SNP) markers following this process. To obtain SNP loci, we conducted whole genome sequencing on 24 Chinese hamsters. Then, we employed an SNP loci screening criterion that we set up previously and initially screened 214 SNP loci with wide ...
Minghe Sun   +14 more
wiley   +1 more source

Beyond Structure: Methylation Fine‐Tunes Stability and Folding Kinetics of bcl2Mid G‐Quadruplex

open access: yesAngewandte Chemie, EarlyView.
The introduction of a single 5‐methylcytosine into a G‐rich sequence originating from the B‐cell lymphoma 2 (BCL2) gene promoter affects both the folding kinetics and thermodynamics of the two G4 structures and thus plays a crucial role in regulating G4 folding pathways, which has significant implications for the control of gene expression.
Nataša Medved   +5 more
wiley   +2 more sources

Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome.

open access: yesPLoS ONE, 2019
IntroductionInterstitial Cystitis (IC) is a chronic condition diagnosed based on the presence of symptoms, such as suprapubic/ pelvic pain, pressure or discomfort in association with urgency and increased urinary frequency.
Valter D Cassão   +6 more
doaj   +1 more source

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