1. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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2. |
- Abe, K., et al.
(författare)
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J-PARC Neutrino Beamline Upgrade Technical Design Report
- 2019
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Rapport (refereegranskat)abstract
- In this document, technical details of the upgrade plan of the J-PARC neutrino beamline for the extension of the T2K experiment are described. T2K has proposed to accumulate data corresponding to 2×1022 protons-on-target in the next decade, aiming at an initial observation of CP violation with 3σ or higher significance in the case of maximal CP violation. Methods to increase the neutrino beam intensity, which are necessary to achieve the proposed data increase, are described.
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3. |
- Higelin, Julia, et al.
(författare)
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NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons
- 2018
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Ingår i: Stem Cell Research. - : Elsevier. - 1873-5061 .- 1876-7753. ; 30, s. 150-162
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-function mutations in NEK1 (NIMA-related kinase 1) have also been recently found to cause ALS. NEK1 codes for a multifunctional protein, crucially involved in mitotic checkpoint control and DDR. To resolve pathological alterations associated with NEK1 mutation, we compared hiPSC-derived motoneurons carrying a NEK1 mutation with mutant C9orf72 and wild type neurons at basal level and after DNA damage induction. Motoneurons carrying a C9orf72 mutation exhibited cell specific signs of increased DNA damage. This phenotype was even more severe in NEK1c.2434A>T neurons that showed significantly increased DNA damage at basal level and impaired DDR after induction of DNA damage in an maturation-dependent manner. Our results provide first mechanistic insight in pathophysiological alterations induced by NEK1 mutations and point to a converging pathomechanism of different gene mutations causative for ALS. Therefore, our study contributes to the development of novel therapeutic strategies to reduce DNA damage accumulation in neurodegenerative diseases and ALS.
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4. |
- Abreu, P, et al.
(författare)
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A measurement of alpha(s) from the scaling violation in e(+)e(-) annihilation
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 398:1-2, s. 194-206
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The hadronic fragmentation functions of the various quark flavours and of gluons are measured in a study of the inclusive hadron production from Z(0) decays with the DELPHI detector and are compared with the fragmentation functions measured elsewhere at e
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5. |
- Abreu, P, et al.
(författare)
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A precise measurement of the B-d(0) meson lifetime using a new technique
- 1997
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Ingår i: ZEITSCHRIFT FUR PHYSIK C-PARTICLES AND FIELDS. - : SPRINGER VERLAG. - 0170-9739. ; 74:1, s. 19-32
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- From data recorded by DELPHI between 1991 and 1994, which corresponds to 3.2 million hadronic Z(0) decays, a measurement of the <(B-d(0))over bar> meson lifetime, based on the inclusive reconstruction of 3520 +/- 150 semileptonic decays of the type <(B-d(
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6. |
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7. |
- Abreu, P, et al.
(författare)
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An upper limit for Br(Z(0)->ggg) from symmetric 3-jet Z(0) hadronic decays
- 1996
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 389:2, s. 405-415
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- An upper limit for BR(Z(0) --> 3g) is obtained from a correlation method, which distinguishes statistically between quark and gluon jets by using the difference in their charged particle multiplicity distributions. From the sample of threefold symmetric t
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8. |
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9. |
- Abreu, P, et al.
(författare)
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Identified particles in quark and gluon jets
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 401:1-2, s. 118-130
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A sample of about 1.4 million hadronic Z decays, selected among the data recorded by the DELPHI detector at LEP during 1994, was used to measure for the first time the momentum spectra of K+, K-0, p, Lambda and their antiparticles in gluon and quark jets.
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10. |
- Abreu, P, et al.
(författare)
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Kaon interference in the hadronic decays of the Z(0)
- 1996
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 379:1-4, s. 330-340
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The first measurement of like-sign charged kaon correlations in hadronic decays of the Z(0) is presented, based on data collected by the DELPHI detector. The charged kaons are identified by means of ring imaging Cherenkov detectors. A significant enhancem
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11. |
- Abreu, P, et al.
(författare)
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m(b) at M-Z
- 1998
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 418:3-4, s. 430-442
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The value of the Lr quark, mass at the M-Z scale defined in the <(MS)over bar> renormalization scheme, m(b)(M-Z), was determined using 2.8 million hadronic Z decays collected during 1992-1994 by the DELPHI detector to be m(b)(M-Z) = 2.67 +/- 0.25 (stat.)
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12. |
- Abreu, P, et al.
(författare)
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Measurement and interpretation of the W-pair cross-section in e(+)e(-) interactions at 161 GeV
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 397:1-2, s. 158-170
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- In 1996 LEP ran at a centre-of-mass energy of 161 GeV, just above the threshold of W-pair production. DELPHI accumulated data corresponding to an integrated luminosity of 9.93 pb(-1), and observed 29 events that are considered as candidates for W-pair pro
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13. |
- Abreu, P, et al.
(författare)
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Measurement of B-d(0)-(B-d(0))over-bar oscillations
- 1997
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Ingår i: ZEITSCHRIFT FUR PHYSIK C-PARTICLES AND FIELDS. - : SPRINGER VERLAG. - 0170-9739. ; 76:4, s. 579-598
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- B-d(0) meson oscillations are measured in hadronic Z(0) decays using the charge of a lepton or the mean charge of an event hemisphere to sign the presence of a b or a (b) over bar quark when it is produced, and using the charge of a lepton emitted at larg
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14. |
- Abreu, P, et al.
(författare)
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Measurement of correlations between pions from different W's in e(+)e(-)->W+W- events
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 401:1-2, s. 181-191
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Correlations between pions from different W's in e(+)e(-) --> W+W- events are studied using data collected by the DELPHI detector at LEP running at a centre-of-mass energy of 172 GeV in 1996. At the present level of statistics, no enhancement of the corre
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15. |
- Abreu, P, et al.
(författare)
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Measurement of the multiplicity of gluons splitting to bottom quark pairs in hadronic Z(0) decays
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 405:1-2, s. 202-214
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- An inclusive measurement of the average multiplicity of b (b) over bar pairs from gluons, g(b (b) over bar), in hadronic Z(0) events collected by the DELPHI experiment at LEP, is presented. A counting technique, based on jet b-tagging in 4-jet events, has
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16. |
- Abreu, P, et al.
(författare)
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Measurement of the quark and gluon fragmentation functions in Z(0) hadronic decays
- 1999
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Ingår i: EUROPEAN PHYSICAL JOURNAL C. - : SPRINGER VERLAG. - 1434-6044. ; 6:1, s. 19-33
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The transverse, longitudinal and asymmetric components of the fragmentation function are measured from the inclusive charged particles produced in e(+)e(-) collisions at LEP. As in deep inelastic scattering, these data are important for tests of QCD. The
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17. |
- Abreu, P, et al.
(författare)
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Measurement of the spin density matrix for the rho(0), K*(0)(892) and phi produced in Z(0) decays
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 406:3, s. 271-286
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The spin density matrix elements for the rho(0), K-*0(892) and phi produced in hadronic Z(0) decays are measured in the DELPHI detector. There is no evidence for spin alignment of the K-*0(892) and phi, in the region x(p) less than or equal to 0.3 (x(p) =
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18. |
- Abreu, P, et al.
(författare)
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Measurement of the transverse spin correlation in Z->tau(+)tau(-) decays
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 404:1-2, s. 194-206
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The measurement of the correlation between the transverse spin components of tau(+)tau(-) pairs collected during 1992 to 1994 with the DELPHI detector at LEP1 is presented. A value C-TT = 0.87 +/- 0.20 (stat.)(-0.12)(+0.10) (syst.) was obtained for the co
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19. |
- Abreu, P, et al.
(författare)
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Measurement of the triple gluon vertex from double quark tagged 4-jet events
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 414:3-4, s. 401-418
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The 4-jet events collected by the DELPHI experiment at LEP1 in 1992, 1993 and 1994 are analysed to determine the contribution of the triple-gluon vertex. Two of the four jets are tagged as jets from b- or c-quarks using lifetime and lepton transverse mome
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20. |
- Abreu, P, et al.
(författare)
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Observation of charge-ordering in particle production in hadronic Z(0) decay
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 407:2, s. 174-184
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Analysis of the rapidity structure of charge correlations in hadronic events from Z(0) decays gives evidence for chain-like charge-ordering of particle production along the thrust axis, as predicted by 'QCD-motivated' string-like fragmentation models. (C)
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21. |
- Abreu, P, et al.
(författare)
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Rapidity correlations in Lambda baryon and proton production in hadronic Z(0) decays
- 1998
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 416:1-2, s. 247-256
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- In an analysis of multihadronic events recorded at LEP by DELPHI in the years 1992 through 1994, rapidity correlations of Lambda-Lambda, proton-proton, and Lambda-proton pairs are compared with each other and with the predictions of the string fragmentati
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22. |
- Abreu, P, et al.
(författare)
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Search for charginos, neutralinos and gravitinos at LEP
- 1998
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Ingår i: EUROPEAN PHYSICAL JOURNAL C. - : SPRINGER VERLAG. - 1434-6044. ; 1:1-2, s. 1-20
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- An update of the searches for charginos and neutralinos in DELPHI is presented, based mainly on recent data collected at centre-of-mass energies of 161 GeV and 172 GeV. No signal is found. For a sneutrino with mass above 300 GeV/c(2) and a mass difference
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23. |
- Abreu, P, et al.
(författare)
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Search for excited leptons in e(+)e(-) collisions at root s=161 GeV
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 393:1-2, s. 245-260
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A search with the DELPHI detector at LEP for excited leptons (e*, mu*, tau* and nu*) decaying through gamma, W or Z transitions is reported. The data used correspond to an integrated luminosity of 10 pb(-1) e(+)e(-) centre-of-mass energy at an e of 161 Ge
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24. |
- Abreu, P, et al.
(författare)
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Search for neutral and charged Higgs bosons in e(+)e(-) collisions at root s=161 GeV and 172 GeV
- 1998
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Ingår i: EUROPEAN PHYSICAL JOURNAL C. - : SPRINGER VERLAG. - 1434-6044. ; 2:1, s. 1-37
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A search for neutral and charged Higgs bosons has been performed in the data collected by the DELPHI detector at centre-of-mass energies of 161 GeV and 172 GeV. The analysis assumes either the pair-production of charged Higgs bosons, H+/-, or the producti
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25. |
- Abreu, P, et al.
(författare)
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Search for neutral heavy leptons produced in Z decays
- 1997
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Ingår i: ZEITSCHRIFT FUR PHYSIK C-PARTICLES AND FIELDS. - : SPRINGER VERLAG. - 0170-9739. ; 74:1, s. 57-71
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Weak isosinglet Neutral Heavy Leptons (nu(m)) have been searched for using data collected by the DELPHI detector corresponding to 3.3 x 10(6) hadronic Z(0) decays at LEP1. Four separate searches have been performed, for short-lived nu(m) production giving
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26. |
- Abreu, P, et al.
(författare)
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Search for stable heavy charged particles in e(+)e(-) collisions at root s=130-136, 161 and 172 GeV
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 396:1-4, s. 315-326
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A search for stable or long-lived heavy charged particles in e(+)e(-) interactions at energies of 130-136, 161 and 172 CeV has been performed using the data taken by the DELPHI experiment at LEP. The search is based on particle identification provided by
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27. |
- Abreu, P, et al.
(författare)
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Search for the B-c meson
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 398:1-2, s. 207-222
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- In a sample of 3.02 million hadronic Z(0) decays collected by the DELPHI detector, 270 J/psi --> e(+)e(-) candidates have been selected. A search for fully reconstructed B-c(+/-) mesons has yielded one B-c(+/-) --> J/psi pi(+/-) candidate, no B-c(+/-) -->
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28. |
- Abreu, P, et al.
(författare)
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Tuning and test of fragmentation models based on identified particles and precision event shape data
- 1996
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Ingår i: ZEITSCHRIFT FUR PHYSIK C-PARTICLES AND FIELDS. - : SPRINGER VERLAG. - 0170-9739. ; 73:1, s. 11-59
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Event shape and charged particle inclusive distributions are measured using 750000 decays of the Z to hadrons from the DELPHI detector at LEP, These precise data allow a decisive confrontation with models of the hadronization process, Improved tunings of
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29. |
- Adam, W, et al.
(författare)
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Search for B-s(0)-(B-s(0))over-bar oscillations
- 1997
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Ingår i: PHYSICS LETTERS B. - : ELSEVIER SCIENCE BV. - 0370-2693. ; 414:3-4, s. 382-400
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Oscillations of B(s)(0)mesons were studied in events with a large transverse momentum lepton selected from 3.2 million hadronic Z(0) decays registered by DELPHI between 1991 and 1994. A limit on the mass difference between the physical B-s(0) states Delta
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30. |
- Adam, W, et al.
(författare)
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Search for pair production of heavy objects in 4-jet events at root s=130-136 GeV
- 1996
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Ingår i: ZEITSCHRIFT FUR PHYSIK C-PARTICLES AND FIELDS. - : SPRINGER VERLAG. - 0170-9739. ; 73:1, s. 1-9
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Results are presented of a search for pair production of heavy objects decaying into four hadronic jets, as expected for example from associated or pair production of MSSM Higgs bosons, hA or H+H-, using a data sample of 5.9 pb(-1) of e(+)e(-) collisions
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