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Article
Open AccessBrazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report
Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed...
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Article
Personalized Medicine for IBD Patients
The etiology of inflammatory bowel diseases (IBD), which includes ulcerative colitis (UC) and Crohn’s disease (CD), is not fully resolved. Considering that the interaction of genetic and immunological features...
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Chapter and Conference Paper
The Effect of Low-Cost Compound Feeds on the Productive Qualities of Broiler Chickens
Poultry farming is one of the most precocious branches of animal husbandry. This is the most knowledge-intensive and dynamic branch of the agro-industrial complex. Agricultural poultry is characterized by rapi...
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Article
Open AccessIncreased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts
Xeroderma pigmentosum (XP) is a rare, autosomal, recessive DNA repair-deficiency disorder with a frequency of 1–3 per million livebirths in Europe and USA but with higher frequencies in isolated islands or in ...
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Chapter and Conference Paper
Analysis of the Possibility of Detecting Inhomogeneous Metal Inclusions in Welded Joints of Rails Under Ultrasonic Control
External factors in the manufacture of welded rail joints have a significant impact on the quality of the welded joint, which leads to the formation of a defect in the form of the thermite metal typical crysta...
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Article
Multicenter survey of endoscopic treatment of vesicoureteral reflux utilizing polyacrylate-polyalcohol-bulking copolymer (Vantris) in patients with duplex systems
Vesicoureteral reflux (VUR) is an abnormality frequently seen at a complete duplex system (DS). Operational correction is required and completed after the neonatal period when symptoms occur.
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Article
Open AccessEngineering of Fe-pnictide heterointerfaces by electrostatic principles
Interface-related phenomena have great potential to control the superconducting state in Fe-based superconductors. We propose a comprehensive classification of Fe-pnictide heterointerfaces based on electrostat...
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Article
Open AccessRAS mutations drive proliferative chronic myelomonocytic leukemia via a KMT2A-PLK1 axis
Proliferative chronic myelomonocytic leukemia (pCMML), an aggressive CMML subtype, is associated with dismal outcomes. RAS pathway mutations, mainly NRASG12D, define the pCMML phenotype as demonstrated by our exo...
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Article
Incidence of UVJ obstruction during long-term follow-up after endoscopic correction of VUR utilizing polyacrylate polyalcohol copolymer (PPC)
We present a long-term follow-up of patients who underwent VUR correction with polyacrylate polyalcohol copolymer (PPC) injection with an emphasis on UVJ obstruction and urinary tract infection.
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Article
Open AccessXPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature
Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome n...
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Article
Effect of Short-Range Correlations on Spectral Properties of Doped Mott Insulators
In the framework of the cluster perturbation theory for the 2D Hubbard and Hubbard-Holstein models at low hole do**, we have studied the effect of local and short-range correlations in strongly correlated sy...
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Article
Spectral Properties of the Bose-Hubbard Model Within the Cluster Perturbation Theory in X-Operators Representation
We study the two-dimensional ultracold Bose gas in optical lattice. We use cluster perturbation theory based on Hubbard X-operators to calculate the spectral function and phase diagram of Bose-Hubbard model which...
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Article
Fabrication of the Fully Hybrid Microcavities Based on Zn(S)Se Epilayers and Amorphous Dielectrics
A technique of fabrication of fully-hybrid microcavities using II-VI semiconductor compound epilayers and distributed Bragg reflectors based on amorphous dielectric coating is described. The fully hybrid micro...
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Article
Open AccessThe effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype
The genetic program, as manifested as the cellular phenotype, is in large part dictated by the cell’s protein composition. Since characterisation of the proteome remains technically laborious it is attractive ...
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Article
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
Alteration of the number of copies of double minutes (DMs) with oncogenic EGFR mutations in response to tyrosine kinase inhibitors is a novel adaptive mechanism of glioblastoma. Here we provide evidence that such...
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Article
Cluster Size and Shape Effect on the Electronic Structure of the Hubbard Model Within the Norm-Conserving Cluster Perturbation Theory
Within a new norm-conserving approach to the cluster perturbation theory (CPT) for the 2d Hubbard model we study the effect of the cluster size and shape on the electronic structure. We have compared two type ...
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Article
Normal and Superconducting Properties of Cuprates in Multielectron Theory
We consider the do** dependence of the normal and superconducting properties of La2−x Sr x CuO4 in the low energy effective model based on the ab initio LDA+GTB...
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Article
Open AccessMeasurement of prompt J/ψ and beauty hadron production cross sections at mid-rapidity in pp collisions at \( \sqrt{s}=7 \) TeV
The ALICE experiment at the LHC has studied J/ψ production at mid-rapidity in pp collisions at \( \sqrt{s}=7 \) TeV through its electron pair decay on a data sample corresponding to ...
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Article
Open AccessUnderlying Event measurements in pp collisions at \( \sqrt {s} = 0.9 \) and 7 TeV with the ALICE experiment at the LHC
We present measurements of Underlying Event observables in pp collisions at \( \sqrt {s} = 0.9 \) and 7TeV. The analysis is perfo...
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Article
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
SHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of about 500 kb at 10q24. The Dactylaplasia mice display e...
