| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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| 4. |
- Aggarwal, M. M., et al.
(författare)
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Event-by-event charged-neutral fluctuations in Pb plus Pb collisions at 158 A GeV
- 2011
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 701:3, s. 300-305
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Tidskriftsartikel (refereegranskat)abstract
- Charged particles and photons have been measured in central Pb + Pb collisions at 158 A GeV in a common (eta-phi)-phase space region in the WA98 experiment at the CERN SPS. The measured distributions have been analyzed to quantify the frequency with which phase space regions of varying sizes have either small or large neutral pion fraction. The measured results are compared with VENUS model simulated events and with mixed events. Events with both large and small charged-neutral fluctuations are observed to occur more frequently than expected statistically, as deduced from mixed events, or as predicted by model simulations, with the difference becoming more prominent with decreasing size of the A Delta eta-Delta phi region. (C) 2011 Elsevier B.V. All rights reserved.
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| 5. |
- Aggarwal, M. M., et al.
(författare)
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Photon and eta production in p plus Pb and p plus C collisions at root(NN)-N-S=17.4 GeV
- 2013
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Ingår i: Nuclear Physics, Section A. - : Elsevier BV. - 0375-9474. ; 898, s. 14-23
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Tidskriftsartikel (refereegranskat)abstract
- Measurements of direct photon production in p + Pb and p + C collisions at root(NN)-N-s = 17.4 GeV are presented. Upper limits on the direct photon yield as a function of p(T) are derived and compared to the results for Pb + Pb collisions at root(NN)-N-s = 17.3 GeV. The production of the eta meson, which is an important input to the direct photon signal extraction, has been determined in the eta -> 2 gamma channel for p + C collisions at root(NN)-N-s = 17.4 GeV. (c) 2012 Elsevier B.V. All rights reserved.
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| 6. |
- Aggarwal, M. M., et al.
(författare)
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Pion freeze-out time in Pb plus Pb collisions at 158 AGeV/c studied via pi(-)/pi(+) and K-/K+ ratios
- 2006
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 48:2, s. 343-352
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Tidskriftsartikel (refereegranskat)abstract
- The effect of the final state Coulomb interaction on particles produced in Pb + Pb collisions at 158AGeV/c has been investigated in the WA98 experiment through the study of the pi(-)/pi(+) and K-/K+ ratios measured as a function of T-m- (m)0. While the ratio for kaons shows no significant T-m dependence, the pi(-)/pi(+) ratio is enhanced at small T-m - (m)0 values with an enhancement that increases with centrality. A silicon pad detector located near the target is used to estimate the contribution of hyperon decays to the pi(-)/pi(+) ratio. The comparison of results with predictions of the RQMD model in which the Coulomb interaction has been incorporated allows to place constraints on the time of the pion freeze-out.
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| 7. |
- Aggarwal, M. M., et al.
(författare)
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Suppression of high-p(T) neutral pion production in central Pb+Pb collisions at root s(NN)=17.3 GeV relative to p+C and p+Pb collisions
- 2008
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Ingår i: Physical Review Letters. - 1079-7114. ; 100:24
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Tidskriftsartikel (refereegranskat)abstract
- Neutral pion transverse momentum spectra were measured in p+C and p+Pb collisions at root s(NN) = 17.4 GeV at midrapidity (2.3 less than or similar to eta(lab)less than or similar to 3.0) over the range 0.7 less than or similar to p(T)less than or similar to 3.5 GeV/c. The spectra are compared to pi(0) spectra measured in Pb+Pb collisions at root s(NN) = 17.3 GeV in the same experiment. For a wide range of Pb+Pb centralities (N-part less than or similar to 300), the yield of pi(0)'s with p(T)greater than or similar to 2 GeV/c is larger than or consistent with the p+C or p+Pb yields scaled with the number of nucleon-nucleon collisions (N-coll), while for central Pb+Pb collisions with N-part greater than or similar to 350, the pi(0) yield is suppressed.
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| 8. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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| 9. |
- Aggarwal, MM, et al.
(författare)
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Centrality and transverse momentum dependence of collective flow in 158 A GeV Pb+Pb collisions measured via inclusive photons
- 2005
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Ingår i: Nuclear Physics, Section A. - : Elsevier BV. - 0375-9474. ; 762:1-2, s. 129-146
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Tidskriftsartikel (refereegranskat)abstract
- Directed and elliptic flow of inclusive photons near mid-rapidity in 158 A GeV Pb + Pb collisions has been studied. The data have been obtained with the photon spectrometer LEDA of the WA98 experiment at the CERN SPS. The flow strength has been measured for various centralities as a function of p(T) and rapidity over 0. 18 < p(T) < 1.5 GeV/c and 2.3 < y < 2.9. The angular anisotropy has been studied relative to an event plane obtained in the target fragmentation region that shows the elliptic flow to be in-plane. The elliptic flow has also been studied using two-particle correlations and shown to give similar results. A small directed flow component is observed. Both the directed and elliptic flow strengths increase with p(T). The photon flow results are used to estimate the corresponding neutral pion flow.
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| 10. |
- Aggarwal, MM, et al.
(författare)
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Centrality dependence of charged-neutral particle fluctuations in 158A (GeVPb)-Pb-208+Pb-208 collisions
- 2003
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 67:4
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Tidskriftsartikel (refereegranskat)abstract
- Results on the study of localized fluctuations in the multiplicity of charged particles and photons produced in 158A GeV/c Pb+Pb collisions are presented for varying centralities. The charged versus neutral particle multiplicity correlations in common phase space regions of varying azimuthal sizes are analyzed by two different methods. Various types of mixed events are constructed to probe fluctuations arising from different sources. The measured results are compared to those from simulations and from mixed events. The comparison indicates the presence of nonstatistical fluctuations in both the charged particle and photon multiplicities in limited azimuthal regions. However, no correlated charged-neutral fluctuations, a possible signature of formation of disoriented chiral condensates, are observed. An upper limit on the production of disoriented chiral condensates is set.
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| 11. |
- Aggarwal, MM, et al.
(författare)
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Event-by-event fluctuations in particle multiplicities and transverse energy produced in 158A GeVPb plus Pb collisions
- 2002
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 65:5
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Tidskriftsartikel (refereegranskat)abstract
- Event-by-event fluctuations in the multiplicities of charged particles and photons, and the total transverse energy in 158A GeV Pb+Pb collisions are studied for a wide range of centralities. For narrow centrality bins the multiplicity and transverse energy distributions are found to be near perfect Gaussians. The effect of detector acceptance on the multiplicity fluctuations has been studied and demonstrated to follow statistical considerations. The centrality dependence of the charged particle multiplicity fluctuations in the measured data has been found to agree reasonably well with those obtained from a participant model. However, for photons the multiplicity fluctuations have been found to be lower compared to those obtained from a participant model. The multiplicity and transverse energy fluctuations have also been compared to those obtained from the VENUS event generator.
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| 12. |
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| 13. |
- Aggarwal, M M, et al.
(författare)
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Azimuthal anisotropy of photon and charged particle emission in Pb-208+Pb-208 collisions at 158 center dot A GeV/c
- 2005
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 41:3, s. 287-296
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Tidskriftsartikel (refereegranskat)abstract
- The azimuthal distributions of photons and charged particles with respect to the event plane are investigated as a function of centrality in Pb-208 + Pb-208 collisions at 158 (.) A GeV/c in the WA98 experiment at the CERN SPS. The anisotropy of the azimuthal distributions is characterized using a Fourier analysis. For both the photon and charged particle distributions the first two Fourier coefficients are observed to decrease with increasing centrality. The observed anisotropies of the photon distributions compare well with the expectations from the charged particle measurements for all centralities.
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| 14. |
- Aggarwal, MM, et al.
(författare)
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Transverse mass distributions of neutral pions from Pb-208-induced reactions at 158 center dot A GeV
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 23:2, s. 225-236
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Tidskriftsartikel (refereegranskat)abstract
- Results on transverse mass spectra of neutral pious measured at central rapidity are presented for impact parameter selected 158-A GeV Pb + Pb-1 and Pb + Nb collisions. The distributions cover the range 0.5 GeV/c(2) less than or equal to MT - Mo less than or equal to 4 GeV/c(2). The change of the spectral shape and the multiplicity with centrality is studied in detail. In going from p+p to semi-peripheral Pb+Pb collisions there is a nuclear enhancement increasing with transverse mass similar to the well known Cronin effect, while for very central collisions this enhancement appears to be weaker than expected.
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| 15. |
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| 16. |
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| 17. |
- Wang, T, et al.
(författare)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Tidskriftsartikel (refereegranskat)abstract
- Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
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| 18. |
- Frey, B. N., et al.
(författare)
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Cooling Yb-Doped Silica Fibers and Fiber Lasers with Anti-Stokes Pumping
- 2023
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Ingår i: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE - International Society for Optical Engineering. - 9781510659797
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Konferensbidrag (refereegranskat)abstract
- Optical cooling in Yb-doped silica fibers using anti-Stokes fluorescence has become a subject of great interest in the fiber laser community. This paper provides an update on the development of silica fibers designed specifically to enhance their cooling properties. This growing list includes a new, nearly single-mode fiber with a borophosphosilicate core that produced –65 mK of cooling with only 260 mW of 1040-nm pump power. The silica compositions that have now been successfully cooled at atmospheric pressure by anti-Stokes fluorescence by our team include aluminosilicate, aluminofluorosilicate, borophosphosilicate, and aluminosilicate doped with one of three different alkali-earth nanoparticles (Ba, Sr, and Ca). By fitting the measured temperature dependence of the cooled fiber on pump power, two key parameters that control the degree of cooling are inferred, namely the critical quenching concentration and the absorptive loss due to impurities. The inferred values compiled for the fibers that cooled indicate that the extracted heat is highest when the Yb concentration is 2 wt.% or more (to maximize heat extraction), the Al concentration is ~0.8 wt.% or greater (to reduce quenching), and the absorptive loss is below approximately 15 dB/km, and ideally below 5 dB/km (to minimize heating due to pump absorption). Only two of the reported fibers, an LaF3-doped and an LuF3-doped nanoparticle fiber, did not cool, because their Yb and Al concentrations were not sufficiently high. This analysis shows that through careful composition control (especially the Al and Yb concentrations) and minimization of the OH contamination, a new generation of Yb-doped silica fibers is emerging with higher Yb concentrations, greater resistance to quenching, and lower residual loss than commercial Yb-doped fibers. They can be expected to have a significant impact not only on optically cooled devices but also on a much broader range of fiber lasers and amplifiers.
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| 19. |
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| 20. |
- Balliu, Enkeleda, PhD student, et al.
(författare)
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Improved Closed-Loop Slow-Light Temperature Sensor With Millidegree Resolution for Laser Cooling
- 2023
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Ingår i: Proceedings - 28th International Conference on Optical Fiber Sensors, OFS 2023. - : Optica Publishing Group.
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Konferensbidrag (refereegranskat)abstract
- For applications such as laser cooling of doped fibers, where it is critical to measure accurately the temperature of a cooled fiber that is very close to room temperature, it is paramount to develop a reliable, very short (mm) fiber temperature sensor with millikelvin resolution and very little drift. We report a second generation of a unique slow-light fiber Bragg grating (FBG) temperature sensor that meets these stringent requirements. Experiments and modeling establish that its temperature response depends only on well-known material constants of the silica FBG and the response of the probe laser's wavelength controller. The response is independent of the linewidth of the slow-light resonance, hence different FBGs and/or resonances have the exact same response. Examples of measured cooling in optically pumped Yb-doped fibers show that more reliable thermal contact with the cooled fiber is obtained by wrapping the FBG and the cooled fiber.
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| 21. |
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| 22. |
- Dunlop, R., et al.
(författare)
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β decay and β-delayed neutron decay of the N=82 nucleus 13149In82
- 2019
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Ingår i: Physical Review C: covering nuclear physics. - 2469-9985.
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Tidskriftsartikel (refereegranskat)abstract
- The half-lives of three β-decaying states of 13149In82 have been measured with the GRIFFIN γ-ray spectrometer at the TRIUMF-ISAC facility to be T1/2(1/2−)=328(15)ms, T1/2(9/2+)=265(8)ms, and T1/2(21/2+)=323(55)ms, respectively. The first observation of γ rays following the βn decay of 131In into 130Sn is reported. The β-delayed neutron emission probability is determined to be P1n=12(7)% for the 21/2+ state and 2.3(3)% from the combined 1/2− and 9/2+ states of 13149In82 observed in this experiment. A significant expansion of the decay scheme of 131In, including 17 new excited states and 35 new γ-ray transitions in 13150Sn81 is also reported. This leads to large changes in the deduced β-branching ratios to some of the low-lying states of 131Sn compared to previous work with implications for the strength of the first-forbidden β transitions in the vicinity of doubly magic 13250Sn82.
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| 23. |
- Hallinan, D., et al.
(författare)
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International transfers of personal data for health research following Schrems II: a problem in need of a solution
- 2021
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 29, s. 1502-1509
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Tidskriftsartikel (refereegranskat)abstract
- On 16 July 2020, the Court of Justice of the European Union issued their decision in the Schrems II case concerning Facebook’s transfers of personal data from the EU to the US. The decision may have significant effects on the legitimate transfer of personal data for health research purposes from the EU. This article aims: (i) to outline the consequences of the Schrems II decision for the sharing of personal data for health research between the EU and third countries, particularly in the context of the COVID-19 pandemic; and, (ii) to consider certain options available to address the consequences of the decision and to facilitate international data exchange for health research moving forward. © 2021, The Author(s).
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| 24. |
- Henderson, J., et al.
(författare)
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Coulomb excitation of the vertical bar T-z vertical bar=1/2, A=23 mirror pair
- 2022
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Ingår i: PHYSICAL REVIEW C. - 2469-9985 .- 2469-9993. ; 105:3
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Tidskriftsartikel (refereegranskat)abstract
- Background: Electric-quadrupole (E2) strengths relate to the underlying quadrupole deformation of a nucleus and present a challenge for many nuclear theories. Mirror nuclei in the vicinity of the line of N = Z represent a convenient laboratory for testing deficiencies in such models, making use of the isospin symmetry of the systems. Purpose: Uncertainties associated with literature E2 strengths in Mg-23 are some of the largest in T-z = vertical bar 1/2 vertical bar nuclei in the sd shell. The purpose of the present paper is to improve the precision with which these values are known, to enable better comparison with theoretical models. Methods: Coulomb-excitation measurements of Mg-23 and Na-23 were performed at the TRIUMF-ISAC facility using the TIGRESS spectrometer. They were used to determine the E2 matrix elements of mixed E2/M1 transitions. Results: Reduced E2 transition strengths, B(E2), were extracted for Mg-23 and Na-23. Their precision was improved by factors of approximately 6 for both isotopes, while agreeing within uncertainties with previous measurements. Conclusions: A comparison was made with both shell-model and ab initio valence-space in-medium similarity renormalization group calculations. Valence-space in-medium similarity renormalization group calculations were found to underpredict the absolute E2 strength, in agreement with previous studies.
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| 25. |
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