| 1. |
- Romagnoni, A, et al.
(författare)
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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10351-
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Tidskriftsartikel (refereegranskat)abstract
- Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.
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| 2. |
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| 3. |
- Doornenbal, P., et al.
(författare)
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RISING: Gamma‐ray Spectroscopy with Radioactive Beams at GSI
- 2007
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Ingår i: AIP Conference Proceedings. - : AIP. - 0094-243X. - 9780735413283 ; 891, s. 99-107
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Konferensbidrag (refereegranskat)abstract
- The Rare Isotope Spectroscopic INvestigation at GSI (RISING) project is a major pan‐European collaboration. Its physics aims are the studies of exotic nuclear matter with abnormal proton‐to‐neutron ratios compared with naturally occurring isotopes. RISING combines the FRagment Separator (FRS) which allows relativistic energies and projectile fragmentation reactions with EUROBALL Ge Cluster detectors for γ spectroscopic research. The RISING setup can be used in two different configurations. Either the nuclei of interest are investigated after being stopped or the heavy ions hit a secondary target at relativistic energies and the thereby occurring excitations are studied. For the latter case, MINIBALL Ge detectors and the HECTOR array are used in addition. Example achievements of the Fast Beam setup are presented and compared to various shell model calculations, while for the Stopped Beam setup initial results are shown.
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| 4. |
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| 5. |
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| 6. |
- Podolyak, Zs., et al.
(författare)
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Isomeric Decay Studies Around 204Pt and 148Tb
- 2007
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Ingår i: The European Physical Journal. Special Topics. - : Springer Science and Business Media LLC. - 1951-6355 .- 1951-6401. ; 150, s. 165-168
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Tidskriftsartikel (refereegranskat)abstract
- Relativistic energy projectile fragmentation of Pb-208 has been used to produce a range of exotic nuclei. The nuclei of interest were studied by detecting delayed gamma rays following the decay of isomeric states. Experimental information on the excited states of the neutron-rich N = 126 nucleus, Pt-204, following internal decay of two isomeric states, was obtained for the first time. In addition, decays from the previously reported isomeric I=27h and I=(49/2)h states in Tb-148 and Gd-147, respectively, have been observed. These isomeric decays represent the highest spin discrete states observed to date following a projectile fragmentation reaction, and opens further the possibility of doing 'high-spin physics' using this technique.
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| 7. |
- Pietri, S., et al.
(författare)
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First Results from the Stopped Beam Isomer RISING Campaign at GSI
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1255-1264
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Tidskriftsartikel (refereegranskat)abstract
- The first results from a series of experiments focused on the study of the internal structure of nuclei at the extremes of N:Z ratio using isomer spectroscopy are reported. These experiments represent the first of the Stopped Beam section of the Rare Isotopes Investigations at GSI (RISING) project. Exotic nuclei were synthesized using relativistic projectile fragmentation of similar to 500 -> 1000 MeV/u beams of Ag-107, Pb-208, Xe-136 and Ni-58, or fission of 750 MeV/u U-238 provided by the SIS synchrotron at GSI. A detailed description of the RISING stopped beam set up is given, together with a report of the performance of the associated gamma-ray spectrometer array. Selected results of the first experimental campaign are presented together with a discussion on the use of isomeric spectroscopy to study GeV range nuclear fragmentation. Details on future research plans of this collaboration are also outlined.
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| 8. |
- Regan, P. H., et al.
(författare)
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First Results from the Stopped RISING Campaign at GSI: The Mapping of Isomeric Decays in Highly Exotic Nuclei
- 2007
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Ingår i: AIP Conference Proceedings. - : AIP. - 0094-243X. - 9780735413283 ; 899, s. 19-22
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Konferensbidrag (refereegranskat)abstract
- The first results from the Stopped Beam RISING experimental campaign performed at the GSI laboratory in Darmstadt, Germany, are presented. RISING (Rare ISotope INvestigations at GSI) constitutes a major new experimental program in European nuclear structure physics research aimed at using relativistic‐energy, projectile‐fragmentation reactions to study nuclei with exotic proton‐to‐neutron ratios. This paper introduces the physics aims of the Stopped RISING collaboration and presents some technical details and initial results from experiments using the RISING array to study decays from metastable nuclear states in both proton and neutron‐rich nuclei.
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| 9. |
- Rudolph, Dirk, et al.
(författare)
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Exciting Isomers from the First Stopped-beam RISING Campaign
- 2007
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Ingår i: The European Physical Journal. Special Topics. - : Springer Science and Business Media LLC. - 1951-6355 .- 1951-6401. ; 150, s. 173-176
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Tidskriftsartikel (refereegranskat)abstract
- First results are reported from a major new initiative of experiments, which focus on nuclear structure studies at extreme isospin values by means of isomer spectroscopy. The experiments represent the first part of the so-called stopped-beam campaign within the Rare ISotope INvestigations at GSI (RISING) project. Time-correlated gamma decays from individually identified nuclear species have been measured, allowing the clean identification of isomeric decays in a wide range of exotic nuclei both at the proton drip-line and in heavy, neutron-rich systems. An overview of the experimental technique will be given, together with the performance of the new germanium detector array and future research plans for the collaboration.
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| 10. |
- Wadsworth, R., et al.
(författare)
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Spin-gap Isomer in 96Cd
- 2012
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Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596 .- 1742-6588. ; 381:1
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Tidskriftsartikel (refereegranskat)abstract
- Evidence has been obtained for the existence of the long predicted 16+ spin-gap isomer in 96Cd. The decay of the isomer was identified and studied following the use of an 850 MeV/u beam of 124Xe impinging on a Be target and the fragment recoil separator at the GSI Laboratory. Gamma decays from the fragments were detected using the RISING gamma ray array, in its stopped beam configuration, plus a silicon active stopper. The data obtained have been compared with shell model predictions, which indicate that the isoscalar neutron-proton interaction plays a key role in the formation of the isomer.
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| 11. |
- Al-Dahan, N., et al.
(författare)
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Isomeric States In 208Hg And 209Tl Populated In Fragmentation Of 238U
- 2009
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 40:3, s. 871-874
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Tidskriftsartikel (refereegranskat)abstract
- The nuclear structure of neutron-rich N > 126 nuclei has been investigated following their production via relativistic projectile fragmentation of a E/A = 1 GeV U-238 beam on a Be target. The preliminary analysis indicates the presence of previously unreported isomeric states in the N = 128 isotones Hg-208 and Tl-209.
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| 12. |
- Al-Dahan, N., et al.
(författare)
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Nuclear Structure "Southeast" of 208Pb: Isomeric states in 208Hg and 209Tl
- 2009
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 80:6
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Tidskriftsartikel (refereegranskat)abstract
- The nuclear structure of neutron-rich N>126 nuclei has been investigated following their production via relativistic projectile fragmentation of a E/A=1 GeV U-238 beam. Metastable states in the N=128 isotones Hg-208 and Tl-209 have been identified. Delayed gamma-ray transitions are interpreted as arising from the decay of I-pi=(8(+)) and (17/2(+)) isomers, respectively. The data allow for the so far most comprehensive verification of the shell-model approach in the region determined by magic numbers Z < 82 and N>126.
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| 13. |
- Bacelar, A. M. Denis, et al.
(författare)
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Angular Momentum Population In Fragmentation Reactions
- 2009
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 40:3, s. 889-892
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Tidskriftsartikel (refereegranskat)abstract
- Neutron-deficient nuclei with N = 126 have been populated following projectile fragmentation of a U-238 beam with energy 1 GeV/A. The decay of several previously reported isomers has been measured. This will allow us to calculate high-spin isomeric ratios and compare them with model calculations to allow a better understanding of the reaction mechanism.
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| 14. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 15. |
- Denis Bacelar, A.M., et al.
(författare)
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The population of metastable states as a probe of relativistic-energy fragmentation reactions
- 2013
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 723:4–5, s. 302-306
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Tidskriftsartikel (refereegranskat)abstract
- Isomeric ratios have been measured for high-spin states in Po-198,200,206,208(84), At-208,209,210,211(85), Rn-210,211,212,213,214(86), Fr-208,211,212,213,214(87), Ra-210,211,212,214,215(88), and Ac-215(89) following the projectile fragmentation of a 1 AGeV U-238 beam by a Be-9 target at GSI Helmholtzzentrum fur Schwerionenforschung. The fragments were separated in the fragment separator (FRS) and identified by means of energy loss and time-of-flight techniques. They were brought to rest at the centre of the RISING gamma-ray detector array and intensities of gamma rays emitted in the decay of isomeric states with half-lives between 100 ns and 40 mu s and spin values up to 55/2 (h) over bar were used to obtain the corresponding isomeric ratios. The data are compared to theoretical isomeric ratios calculated in the framework of the abrasion-ablation model. Large experimental enhancements are obtained for high-spin isomers in comparison to expected values. (C) 2013 Elsevier B.V. All rights reserved.
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| 16. |
- Garnsworthy, A. B., et al.
(författare)
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Isomeric States in Neutron-deficient A~80-90 Nuclei Populated in the Fragmentation of 107Ag
- 2009
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 80:6
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Tidskriftsartikel (refereegranskat)abstract
- The relativistic projectile fragmentation of a 750 MeV per nucleon beam of Ag-107 was used to populate isomeric states in neutron-deficient nuclei around A=80-90. Reaction products were separated and unambiguously identified using the GSI FRagment Separator (FRS) and its ancillary detectors. At the final focal plane, the fragments were slowed from relativistic energies by means of an aluminium degrader and implanted in a passive stopper in the center of the high-efficiency, high-granularity Stopped Rare Isotope Spectroscopic INvestigation at GSI (RISING) germanium array. This allowed the identification of excited states in the N=Z nuclei Tc-86(43) and, for the first time, Nb-82(41). Isomeric states have also been identified for the first time in Tc-87,Tc-88, and a previously unreported isomer was observed in Nb-84. Experimental results are presented along with a discussion on the structure of these nuclei based on interpretations provided by several theoretical models.
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| 17. |
- Garnsworthy, A. B., et al.
(författare)
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Isomeric States in the Light Tc Isotopes
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1265-1269
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Tidskriftsartikel (refereegranskat)abstract
- Preliminary results from the first experiment of the Stopped Beam RISING campaign are presented. The relativistic projectile fragmentation of a 750 MeV/u beam of Ag-107 populated isomeric states in very neutron deficient nuclei at the proton dripline around mass 80-90. Nuclei were unambiguously identified using the FRagment Separator (FRS) and its ancillary detectors located at GSI. The ions produced were slowed down from relativistic energies by means of an Al degrader and implanted in the centre of the high-efficiency Stopped RISING array. This allowed the identification of new excited states in the N = Z = 43 nucleus, Tc-86, populated following the de-excitation of a microsecond isomer. Preliminary results of this analysis, as well as previously unobserved isomeric states in Tc-87,Tc-88. are reported.
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| 18. |
- Garnsworthy, A B, et al.
(författare)
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Neutron-proton pairing competition in N = Z nuclei: Metastable state decays in the proton dripline nuclei Nb-82(41) and Tc-86(43)
- 2008
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 660:4, s. 326-330
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Tidskriftsartikel (refereegranskat)abstract
- The low-lying structures of the self-conjugate (N = Z) nuclei Nb-82(41)41 and Tc-86(43)43 have been investigated using isomeric-decay spectroscopy following the projectile fragmentation of a Ag-107 beam. These represent the heaviest odd-odd N = Z nuclei in which internal decays have been identified to date. The resulting level schemes shed light on the shape evolution along the N = Z line between the doubly-magic systems Ni-56(28) and Sn-100(50) and support a preference for T = 1 states in T-z = 0 odd-odd nuclei at low excitation energies associated with a T = 1 neutron-proton pairing gap. Comparison with Projected Shell Model calculations suggests that the decay in Nb-82 may be interpreted as an isospin-changing K isomer.
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| 19. |
- Grawe, H., et al.
(författare)
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The (6+) isomer in 102Sn revisited : Neutron and proton effective charges close to the double shell closure
- 2021
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Ingår i: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 820
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Tidskriftsartikel (refereegranskat)abstract
- In a high-energy fragmentation experiment at GSI an Iπ = (6+) isomer and its γ-decay are identified in 102Sn, the two-neutron neighbour of the doubly-magic 100Sn. Its half-life is measured to be T1/2 = 367(11) ns. The possible existence of further isomers is discussed in the framework of large-scale shell model (LSSM) calculations including up to five particle-hole excitations of the 100Sn core. From the precise B(E2; 6+ → 4+) strength and the recently remeasured value for B(E2; 8+ → 6+) in the two-proton hole neighbour 98Cd effective E2 polarization charges for protons and neutrons were inferred including LSSM corrections within the full N=4 0hω space. The results are discussed in comparison to predicted and empirically determined effective operators.
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| 20. |
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| 21. |
- Myalski, S., et al.
(författare)
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Isomeric Ratio for the I=8+ Yrast State in 96Pd Produced in the Relativistic Fragmentation of 107Ag
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1277-1282
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Tidskriftsartikel (refereegranskat)abstract
- We report on the preliminary results from a study of the decay of the I-pi = 8(+) T-1/2 = 2 mu s isomer in Pd-96 performed as part of the Stopped-Beam RISING campaign within the Rare Isotope Investigation at GSI (RISING). The Pd-96 ions were produced following the projectile fragmentation of a 750 MeV per nucleon Ag-107 primary beam. The reaction products were separated and identified by the in-flight method using the GSI Fragment Separator. The residues of interest were stopped in a perspex stopper surrounded by an array of 15, seven-element germanium Cluster detectors. One of the goals of the current work is to investigate the population of high-spin states produced projectile fragmentation reactions using isomeric ratio measurements to infer information on the angular momentum population distribution. In this short contribution the method and results of determining the isomeric ratio for the I-pi = 8(+) microsecond isomer in Pd-96 nucleus are presented.
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| 22. |
- Myalski, S., et al.
(författare)
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Isomeric Ratios For Nuclei With Z=62-67 And A=142-152 Produced In The Relativistic Fragmentation Of Pb-208
- 2009
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 40:3, s. 879-883
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Tidskriftsartikel (refereegranskat)abstract
- Isomeric states in nuclei with Z = 62-67 and A = 142-152 produced in the fragmentation of the relativistic (1 GeV/nucleon) Pb-208 beam were investigated. Isomeric ratios were determined for 10 isomeric states. Significant differences between theoretical and experimental values were observed.
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| 23. |
- Myalski, S., et al.
(författare)
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Study of Isomer Production Rates for A=142-152 and Z=62-67 in Fragmentation of a Relativistic 208Pb Beam
- 2012
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 43:2, s. 253-259
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated nuclear fragmentation reactions of a relativistic Pb-208 beam. Ten isomeric states for nuclei with A = 142-152 and Z = 62-67 were observed. Measured isomeric ratios were compared, together with values from other experiments, with prediction of theoretical models. The discrepancies between the experimental and theoretical values were discussed in terms of transitions by-passing the isomer that are not included in the models.
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| 24. |
- Podolyak, Zs., et al.
(författare)
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Structure of Neutron-rich Nuclei Around the N=126 Closed Shell; the Yrast Structure of 205Au up to Spin-parity I = (19/2+)
- 2009
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 42:3, s. 489-493
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Konferensbidrag (refereegranskat)abstract
- Heavy neutron-rich nuclei have been populated through the relativistic fragmentation of a Pb-208(82) beam at E/A = 1 GeV on a 2.5 g/cm(2) thick Be target. The synthesised nuclei were selected and identified in-flight using the fragment separator at GSI. Approximately 300 ns after production, the selected nuclei were implanted in an similar to 8 mm thick perspex stopper, positioned at the centre of the RISING gamma-ray detector spectrometer array. A previously unreported isomer with a half-life T-1/2 = 163(5) ns has been observed in the N = 126 closed-shell nucleus Au-205(79). Through gamma-ray singles and gamma-gamma coincidence analysis a level scheme was established. The comparison with a shell model calculation tentatively identifies the spin-parity of the excited states, including the isomer itself, which is found to be I-pi = (19/2(+)).
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| 25. |
- Regan, P. H., et al.
(författare)
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Isomer Spectroscopy Using Relativistic Projectile Fragmentation at the N=Z Line for A~80-90
- 2007
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Ingår i: Nuclear Physics, Section A. - : Elsevier BV. - 0375-9474. ; 787:1-4, s. 491-498
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Tidskriftsartikel (refereegranskat)abstract
- The preliminary results from the RISING Stopped Beam Isomer Campaign are presented, with specific focus on results of the initial experiment to investigate isomeric decays along the N=Z line around A similar to 80-90 following the projectile fragmentation of a Ag-107 primary beam at an energy of 750 MeV per nucleon. A description of the technical aspects behind the design of the RISING array is presented, together with evidence for previously unreported isomeric decays in Tc-87,Tc-88 and the N=Z nuclei Nb-82(41) and Tc-86(43).
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