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| 2. |
- Patrignani, C., et al.
(författare)
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REVIEW OF PARTICLE PHYSICS : Particle Data Group
- 2016
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Ingår i: Chinese Physics C. - : IOP Publishing. - 1674-1137 .- 2058-6132. ; 40:10
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Tidskriftsartikel (refereegranskat)abstract
- The Review summarizes much of particle physics and cosmology. Using data from previous editions, plus 3,062 new measurements from 721 papers, we list, evaluate, and average measured properties of gauge bosons and the recently discovered Higgs boson, leptons, quarks, mesons, and baryons. We summarize searches for hypothetical particles such as supersymmetric particles, heavy bosons, axions, dark photons, etc. All the particle properties and search limits are listed in Summary Tables. We also give numerous tables, figures, formulae, and reviews of topics such as Higgs Boson Physics, Supersymmetry, Grand Unified Theories, Neutrino Mixing, Dark Energy, Dark Matter, Cosmology, Particle Detectors, Colliders, Probability and Statistics. Among the 117 reviews are many that are new or heavily revised, including new reviews on Pentaquarks and Inflation. The complete Review is published online in a journal and on the website of the Particle Data Group (http://pdg.lbl.gov). The printed PDG Book contains the Summary Tables and all review articles but no longer includes the detailed tables from the Particle Listings. A Booklet with the Summary Tables and abbreviated versions of some of the review articles is also available.
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| 3. |
- Hammarsjö, A., et al.
(författare)
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
- 2021
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Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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| 4. |
- Bradák, B., et al.
(författare)
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Potential drivers of disparity in early Middle Pleistocene interglacial climate response over Eurasia
- 2022
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Ingår i: Palaeogeography, Palaeoclimatology, Palaeoecology. - : Elsevier. - 0031-0182 .- 1872-616X. ; 585
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Tidskriftsartikel (refereegranskat)abstract
- Poor understanding of the differential evolution of interglacial climate over various regions in Eurasia greatly limits our ability to predict the specific local impacts of future climate change. Here we demonstrate starkly opposing trends in interglacial intensities in Asia and Europe over the early Middle Pleistocene and Mid-Brunhes Transitions based on the study of various climate proxies in the Paks loess record (Hungary), a key profile in the European Loess Belt. These contrasting climate trends imply major but unexplained differences in the regional response of Quaternary climate to shifts in forcing mechanisms during two major reorganizations of Earth's climate across Eurasia. Using new rock magnetic datasets from the Paks record we suggest that the changing dominance of Mediterranean, Atlantic (Westerlies) and continental air masses under the influence of the quasi permanent high pressure centres over the Fennoscandian ice sheet played a key role in the observed differences in the evolution of early Middle Pleistocene climate. We also propose that the intensification of the early Middle Pleistocene glaciation of Central Asian mountains may have strengthened and shifted the Siberian High west-ward on multi-millennial/orbital timescales, which in turn forced geographically contrasting expressions of the MIS 19 to 11 interglacials in Eurasia. This is the first coherent explanation for the geographically diverse response of regional climate to the early Middle Pleistocene climate transitions and points to the clear role of global cooling and expanded mid-latitude glaciers in driving these events.
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| 5. |
- Bredberg, G, et al.
(författare)
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Electrodes for ossified cochleas
- 1997
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Ingår i: The American journal of otology. - 0192-9763. ; 18:66 Suppl, s. S42-S43
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Tidskriftsartikel (refereegranskat)
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| 6. |
- Hyodo, M., et al.
(författare)
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Testing block-diagonal covariance structure for high-dimensional data
- 2015
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Ingår i: Statistica Neerlandica. - : Wiley-Blackwell. - 0039-0402 .- 1467-9574. ; 69:4, s. 460-482
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Tidskriftsartikel (refereegranskat)abstract
- A test statistic is developed for making inference about a block-diagonal structure of the covariance matrix when the dimensionality p exceeds n, where n = N - 1 and N denotes the sample size. The suggested procedure extends the complete independence results. Because the classical hypothesis testing methods based on the likelihood ratio degenerate when p > n, the main idea is to turn instead to a distance function between the null and alternative hypotheses. The test statistic is then constructed using a consistent estimator of this function, where consistency is considered in an asymptotic framework that allows p to grow together with n. The suggested statistic is also shown to have an asymptotic normality under the null hypothesis. Some auxiliary results on the moments of products of multivariate normal random vectors and higher-order moments of the Wishart matrices, which are important for our evaluation of the test statistic, are derived. We perform empirical power analysis for a number of alternative covariance structures.
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| 7. |
- Koizumi, K., et al.
(författare)
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Modified jarque-bera type tests for multivariate normality in a high-dimensional framework
- 2014
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Ingår i: Journal of Statistical Theory and Practice. - : Springer Science and Business Media LLC. - 1559-8608 .- 1559-8616. ; 8:2, s. 382-399
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Tidskriftsartikel (refereegranskat)abstract
- In this article, we introduce two types of new omnibus procedures for testing multivariate normality based on the sample measures of multivariate skewness and kurtosis. These characteristics, initially introduced by, for example, Mardia (1970) and Srivastava (1984), were then extended by Koizumi, Okamoto, and Seo (2009), who proposed the multivariate Jarque-Bera type test () based on the Srivastava (1984) principal components measure scores of skewness and kurtosis. We suggest an improved MJB test () that is based on the Wilson-Hilferty transform, and a modified MJB test () that is based on the F-approximation to. Asymptotic properties of both tests are examined, assuming that both dimensionality and sample size go to infinity at the same rate. Our simulation study shows that the suggested test outperforms both and for a number of high-dimensional scenarios. The test is then used for testing multivariate normality of the real data digitalized character image.
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| 8. |
- Shutoh, N., et al.
(författare)
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Constrained linear discriminant rule via the Studentized classification statistic based on monotone missing data
- 2012
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Ingår i: SUT Journal of Mathematics. - 0916-5746. ; 48:1, s. 55-69
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Tidskriftsartikel (refereegranskat)abstract
- This paper provides an asymptotic expansion for the distribution of the Studentized linear discriminant function with k-step monotone missing training data. It turns out to be a certain generalization of the results derived by Anderson [1] and Shutoh and Seo [12]. Furthermore we also derive the cutoff point constrained by a conditional probability of misclassification using the idea of McLachlan [8]. Finally we perform Monte Carlo simulation to evaluate our results.
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