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  • Garte, S, et al. (author)
  • Metabolic gene polymorphism frequencies in control populations
  • 2001
  • In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1055-9965. ; 10:12, s. 1239-1248
  • Journal article (peer-reviewed)
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4.
  • Smits, KM, et al. (author)
  • Association of metabolic gene polymorphisms with tobacco consumption in healthy controls
  • 2004
  • In: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 110:2, s. 266-270
  • Journal article (peer-reviewed)abstract
    • Polymorphisms in genes that encode for metabolic enzymes have been associated with variations in enzyme activity between individuals. Such variations could be associated with differences in individual exposure to carcinogens that are metabolized by these genes. In this study, we examine the association between polymorphisms in several metabolic genes and the consumption of tobacco in a large sample of healthy individuals. The database of the International Collaborative Study on Genetic Susceptibility to Environmental Carcinogens was used. All the individuals who were controls from the case-control studies included in the data set with information on smoking habits and on genetic polymorphisms were selected (n = 20,938). Sufficient information was available on the following genes that are involved in the metabolism of tobacco smoke constituents: CYPIAI, GSTMI, GSTTI, NAT2 and GSTPI. None of the tested genes was clearly associated with smoking behavior. Information on smoking dose, available for a subset of subjects, showed no effect of metabolic gene polymorphisms on the amount of smoking. No association between polymorphisms in the genes studied and tobacco consumption was observed; therefore, no effect of these genes on smoking behavior should be expected.
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  • van der Wouden, C. H., et al. (author)
  • Implementing Pharmacogenomics in Europe : Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium
  • 2017
  • In: Clinical Pharmacology and Therapeutics. - : WILEY. - 0009-9236 .- 1532-6535. ; 101:3, s. 341-358
  • Journal article (peer-reviewed)abstract
    • Despite scientific and clinical advances in the field of pharmacogenomics (PGx), application into routine care remains limited. Opportunely, several implementation studies and programs have been initiated over recent years. This article presents an overview of these studies and identifies current research gaps. Importantly, one such gap is the undetermined collective clinical utility of implementing a panel of PGx-markers into routine care, because the evidence base is currently limited to specific, individual drug-gene pairs. The Ubiquitous Pharmacogenomics (U-PGx) Consortium, which has been funded by the European Commission's Horizon-2020 program, aims to address this unmet need. In a prospective, block-randomized, controlled clinical study (PREemptive Pharmacogenomic testing for prevention of Adverse drug REactions [PREPARE]), pre-emptive genotyping of a panel of clinically relevant PGx-markers, for which guidelines are available, will be implemented across healthcare institutions in seven European countries. The impact on patient outcomes and cost-effectiveness will be investigated. The program is unique in its multicenter, multigene, multidrug, multi-ethnic, and multi-healthcare system approach.
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  • Andel, B., et al. (author)
  • β -delayed fission of isomers in Bi 188
  • 2020
  • In: Physical Review C. - 2469-9985. ; 102:1
  • Journal article (peer-reviewed)abstract
    • β-delayed fission (βDF) decay of a low-spin (ls) and a high-spin (hs) isomer in Bi188 was studied at the ISOLDE facility at CERN. Isomer-selective laser ionization and time gating were employed to investigate each isomer separately and their βDF partial half-lives were determined: T1/2p,βDF(188Bihs)=5.6(8)×103 s and T1/2p,βDF(188Bils)=1.7(6)×103 s. This work is the first βDF study of two states in one isotope and allows the spin dependence of low-energy fission to be explored. The fission fragment mass distribution of a daughter nuclide Pb188, following the β decay of the high-spin isomer, was deduced and indicates a mixture of symmetric and asymmetric fission modes. Experimental results were compared with self-consistent mean-field calculations based on the finite-range Gogny D1M interaction. To reproduce the measured T1/2p,βDF(188Bihs), the calculated fission barrier of Pb188 had to be reduced by ≈30%. After this reduction, the measured T1/2p,βDF(188Bils) was in agreement with calculations for a few possible configurations for Bils188. Theoretical βDF probabilities for these configurations were found to be lower by a factor of 4-9 than the βDF probability of Bihs188. The fission fragment mass distribution of Pb188 was compared to the scission-point model SPY and the calculations based on the finite-range liquid-drop model. The first observation of βDF for Bi190 is also reported. © 2020 authors. Published by the American Physical Society. Published by the American Physical Society under the terms of the Creative Commons Attribution 4.0 International license. Further distribution of this work must maintain attribution to the author(s) and the published article's title, journal citation, and DOI.
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  • Kalman, L. V., et al. (author)
  • Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
  • 2016
  • In: Clinical Pharmacology and Therapeutics. - : WILEY-BLACKWELL. - 0009-9236 .- 1532-6535. ; 99:2, s. 172-185
  • Journal article (peer-reviewed)abstract
    • This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
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  • Obst, Matthias, 1974, et al. (author)
  • A Marine Biodiversity Observation Network for Genetic Monitoring of Hard-Bottom Communities (ARMS-MBON)
  • 2020
  • In: Frontiers in Marine Science. - : Frontiers Media SA. - 2296-7745. ; 7
  • Journal article (peer-reviewed)abstract
    • Marine hard-bottom communities are undergoing severe change under the influence of multiple drivers, notably climate change, extraction of natural resources, pollution and eutrophication, habitat degradation, and invasive species. Monitoring marine biodiversity in such habitats is, however, challenging as it typically involves expensive, non-standardized, and often destructive sampling methods that limit its scalability. Differences in monitoring approaches furthermore hinders inter-comparison among monitoring programs. Here, we announce a Marine Biodiversity Observation Network (MBON) consisting of Autonomous Reef Monitoring Structures (ARMS) with the aim to assess the status and changes in benthic fauna with genomic-based methods, notably DNA metabarcoding, in combination with image-based identifications. This article presents the results of a 30-month pilot phase in which we established an operational and geographically expansive ARMS-MBON. The network currently consists of 20 observatories distributed across European coastal waters and the polar regions, in which 134 ARMS have been deployed to date. Sampling takes place annually, either as short-term deployments during the summer or as long-term deployments starting in spring. The pilot phase was used to establish a common set of standards for field sampling, genetic analysis, data management, and legal compliance, which are presented here. We also tested the potential of ARMS for combining genetic and image-based identification methods in comparative studies of benthic diversity, as well as for detecting non-indigenous species. Results show that ARMS are suitable for monitoring hard-bottom environments as they provide genetic data that can be continuously enriched, re-analyzed, and integrated with conventional data to document benthic community composition and detect non-indigenous species. Finally, we provide guidelines to expand the network and present a sustainability plan as part of the European Marine Biological Resource Centre (www.embrc.eu).
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  • Sarteau, A. C., et al. (author)
  • Changes to care delivery at nine international pediatric diabetes clinics in response to the COVID-19 global pandemic
  • 2021
  • In: Pediatric Diabetes. - : Hindawi Limited. - 1399-543X .- 1399-5448. ; 22:3, s. 463-468
  • Journal article (peer-reviewed)abstract
    • Background Pediatric diabetes clinics around the world rapidly adapted care in response to COVID-19. We explored provider perceptions of care delivery adaptations and challenges for providers and patients across nine international pediatric diabetes clinics. Methods Providers in a quality improvement collaborative completed a questionnaire about clinic adaptations, including roles, care delivery methods, and provider and patient concerns and challenges. We employed a rapid analysis to identify main themes. Results Providers described adaptations within multiple domains of care delivery, including provider roles and workload, clinical encounter and team meeting format, care delivery platforms, self-management technology education, and patient-provider data sharing. Providers reported concerns about potential negative impacts on patients from COVID-19 and the clinical adaptations it required, including fears related to telemedicine efficacy, blood glucose and insulin pump/pen data sharing, and delayed care-seeking. Particular concern was expressed about already vulnerable patients. Simultaneously, providers reported 'silver linings' of adaptations that they perceived as having potential to inform care and self-management recommendations going forward, including time-saving clinic processes, telemedicine, lifestyle changes compelled by COVID-19, and improvements to family and clinic staff literacy around data sharing. Conclusions Providers across diverse clinical settings reported care delivery adaptations in response to COVID-19-particularly telemedicine processes-created challenges and opportunities to improve care quality and patient health. To develop quality care during COVID-19, providers emphasized the importance of generating evidence about which in-person or telemedicine processes were most beneficial for specific care scenarios, and incorporating the unique care needs of the most vulnerable patients.
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  • Alström, P., et al. (author)
  • Morphological, vocal and genetic divergence in the Cettia acanthizoides complex (Aves: Cettiidae)
  • 2007
  • In: Zoological Journal of the Linnean Society. - : Oxford University Press (OUP). - 0024-4082 .- 1096-3642. ; 149:3, s. 437-452
  • Journal article (peer-reviewed)abstract
    • We used morphological, vocal and molecular (one mitochondrial and two nuclear loci) data to re-evaluate the taxonomic status of the taxa acanthizoides, concolor, and brunnescens in the Cettia acanthizoides (J. Verreaux, 1871) complex. We conclude that all three are valid taxa, and that acanthizoides of China and concolor of Taiwan are best treated as conspecific, whereas brunnescens of the Himalayas is better considered as a separate species. The degree of morphological, vocal, and genetic differentiation is variably congruent among all taxa; the recently separated acanthizoides and concolor differ slightly in plumage and structure but are indistinguishable in vocalizations, whereas the earlier diverged brunnescens and acanthizoides/concolor differ only slightly more in morphology but to a much greater degree in vocalizations. We stress the essential nature of taxonomic revisions as a prerequisite for the biodiversity estimates required for conservation planning.
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  • Andrade, S. C. S., et al. (author)
  • Disentangling ribbon worm relationships: multi-locus analysis supports traditional classification of the phylum Nemertea
  • 2012
  • In: Cladistics. - : Wiley. - 0748-3007. ; 28:2, s. 141-159
  • Journal article (peer-reviewed)abstract
    • The phylogenetic relationships of selected members of the phylum Nemertea are explored by means of six markers amplified from the genomic DNA of freshly collected specimens (the nuclear 18S rRNA and 28S rRNA genes, histones H3 and H4, and the mitochondrial genes 16S rRNA and cytochrome c oxidase subunit I). These include all previous markers and regions used in earlier phylogenetic analyses of nemerteans, therefore acting as a scaffold to which one could pinpoint any previously published study. Our results, based on analyses of static and dynamic homology concepts under probabilistic and parsimony frameworks, agree in the non-monophyly of Palaeonemertea and in the monophyly of Heteronemerta and Hoplonemertea. The position of Hubrechtella and the Pilidiophora hypothesis are, however, sensitive to analytical method, as is the monophyly of the non-hubrechtiid palaeonemerteans. Our results are, however, consistent with the main division of Hoplonemertea into Polystilifera and Monostilifera, the last named being divided into Cratenemertea and Distromatonemertea, as well as into the main division of Heteronemertea into Baseodiscus and the remaining species. The study also continues to highlight the deficient taxonomy at the family and generic level within Nemertea and sheds light on the areas of the tree that require further refinement.
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  • Baker, C. P., et al. (author)
  • Female adolescent singing voice characteristics : an exploratory study using LTAS and inverse filtering
  • 2022
  • In: Logopedics, Phoniatrics, Vocology. - : Informa UK Limited. - 1401-5439 .- 1651-2022. ; , s. 1-13
  • Journal article (peer-reviewed)abstract
    • Background and Aim: To date, little research is available that objectively quantifies female adolescent singing-voice characteristics in light of the physiological and functional developments that occur from puberty to adulthood. This exploratory study sought to augment the pool of data available that offers objective voice analysis of female singers in late adolescence. Methods: Using long-term average spectra (LTAS) and inverse filtering techniques, dynamic range and voice-source characteristics were determined in a cohort of vocally healthy cis-gender female adolescent singers (17 to 19 years) from high-school choirs in Aotearoa New Zealand. Non-parametric statistics were used to determine associations and significant differences. Results: Wide intersubject variation was seen between dynamic range, spectral measures of harmonic organisation (formant cluster prominence, FCP), noise components in the spectrum (high-frequency energy ratio, HFER), and the normalised amplitude quotient (NAQ) suggesting great variability in ability to control phonatory mechanisms such as subglottal pressure (Psub), glottal configuration and adduction, and vocal tract shaping. A strong association between the HFER and NAQ suggest that these non-invasive measures may offer complimentary insights into vocal function, specifically with regard to glottal adduction and turbulent noise in the voice signal. Conclusion: Knowledge of the range of variation within healthy adolescent singers is necessary for the development of effective and inclusive pedagogical practices, and for vocal-health professionals working with singers of this age. LTAS and inverse filtering are useful non-invasive tools for determining such characteristics. 
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  • De Vin, Leo, et al. (author)
  • Information fusion for decision support in manufacturing : studies from the defense sector
  • 2008
  • In: The International Journal of Advanced Manufacturing Technology. - : Springer. - 0268-3768 .- 1433-3015. ; 35:9-10, s. 908-915
  • Journal article (other academic/artistic)abstract
    • Information fusion, the synergistic combination of information from multiple sources, is an established research area within the defense sector. In manufacturing however, it is less well-established, with the exception of sensor/data fusion for automatic decision making. The paper briefly discusses some military specific models and methods for information fusion; analogies with manufacturing as well as a more generalized terminology are presented. “Manufacturing” is an application scenario within a Swedish information fusion research program that studies information fusion from databases, sensors and simulations with (currently) a focus on support for human decision making. An area of particular interest is that of advanced applications of virtual manufacturing such as synthetic environments, a form of hardware in the loop simulation that can deliver services such as service and maintenance at remote locations. In this area, the manufacturing industry can benefit from ongoing work in the defense sector related to verification, validation and accreditation of simulation models.
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  • Esbjörnsson, M, et al. (author)
  • Muscle fibre types and enzyme activities after training with local leg ischaemia in man.
  • 1993
  • In: Acta Physiologica Scandinavica. - : Wiley. - 0001-6772 .- 1365-201X. ; 148:3, s. 233-41
  • Journal article (peer-reviewed)abstract
    • Eight healthy men performed supine one-legged training on a bicycle ergometer 45 min per leg four times per week for 4 week. The ergometer and lower body were inside a pressure chamber, the opening of which was sealed at the level of the crotch. One leg trained with impeded leg blood flow (I-leg), induced by an increased (50 mmHg) chamber pressure, at the highest tolerable intensity. The contralateral leg trained at the same power under normal pressure (N-leg). Before and after training biopsies were taken from the vastus lateralis of both legs and maximal one-legged exercise tests were executed with both legs. Biopsies were repeated when the subjects had been back to their habitual physical activity for 3 months. Training increased exercise time to exhaustion, but more in the I-leg than in the N-leg. After training, the I-leg had higher activity of citrate synthase (CS), a marker of oxidative capacity, and lower activity of the M-subunit of lactate dehydrogenase isoenzymes. It also had a higher percentage of type-I fibres and a lower percentage of IIB fibres, larger areas of all fibre types and a greater number of capillaries per fibre. It is concluded that ischaemic training changes the muscle metabolic profile in a direction facilitating aerobic metabolism. An altered fibre-type composition may contribute, but is not enough prerequisite for the change.
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  • Huezo-Diaz, P, et al. (author)
  • CYP2C19 genotype predicts steady state escitalopram concentration in GENDEP
  • 2012
  • In: Journal of psychopharmacology (Oxford, England). - : SAGE Publications. - 1461-7285 .- 0269-8811. ; 26:3, s. 398-407
  • Journal article (peer-reviewed)abstract
    • In vitro work shows CYP2C19 and CYP2D6 contribute to the metabolism of escitalopram to its primary metabolite, N-desmethylescitalopram. We report the effect of CYP2C19 and CYP2D6 genotypes on steady state morning concentrations of escitalopram and N-desmethylescitalopram and the ratio of this metabolite to the parent drug in 196 adult patients with depression in GENDEP, a clinical pharmacogenomic trial. Subjects who had one CYP2D6 allele associated with intermediate metabolizer phenotype and one associated with poor metabolizer (i.e. IM/PM genotypic category) had a higher mean logarithm escitalopram concentration than CYP2D6 extensive metabolizers (EMs) ( p = 0.004). Older age was also associated with higher concentrations of escitalopram. Covarying for CYP2D6 and age, we found those homozygous for the CYP2C19*17 allele associated with ultrarapid metabolizer (UM) phenotype had a significantly lower mean escitalopram concentration (2-fold, p = 0.0001) and a higher mean metabolic ratio ( p = 0.0003) than EMs, while those homozygous for alleles conferring the PM phenotype had a higher mean escitalopram concentration than EMs (1.55-fold, p = 0.008). There was a significant overall association between CYP2C19 genotypic category and escitalopram concentration ( p = 0.0003; p = 0.0012 Bonferroni corrected). In conclusion, we have demonstrated an association between CYP2C19 genotype, including the CYP2C19*17 allele, and steady state escitalopram concentration.
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  • Kaijser, L., et al. (author)
  • Muscle oxidative capacity and work performance after training under local leg ischemia
  • 1990
  • In: Journal of applied physiology. - : American Physiological Society. - 8750-7587 .- 1522-1601. ; 69:2, s. 785-787
  • Journal article (peer-reviewed)abstract
    • Healthy young men executed supine one-legged cycle training four times per week for 4 wk with legs and the cycle ergometer inside a pressure chamber, the opening of which was sealed by a rubber membrane at the level of the crotch. Each training session started by training one leg under ischemic conditions induced by increased chamber pressure (50 mmHg) at the highest intensity tolerable for 45 min. Then the other leg was trained with the same power profile but normal atmospheric chamber pressure. Before and after the training period, both legs executed one-legged exercise tests under both normal and increased chamber pressure and muscle biopsies were taken from the vastus lateralis. Ischemic training increased performance more than normal training, the difference being greater for exercise executed under ischemic conditions. The difference in performance increase between the legs was paralleled by a greater muscle citrate synthase activity in the ischemically than in the normally trained leg.
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  • Lornudd, C., et al. (author)
  • A champagne tower of influence : An interview study of how corporate boards enact occupational health and safety
  • 2021
  • In: Safety Science. - : Elsevier B.V.. - 0925-7535 .- 1879-1042. ; 143
  • Journal article (peer-reviewed)abstract
    • The board of directors is responsible for governing organizations, including firms’ occupational health and safety (OHS). However, empirical research addressing how boards of directors enact OHS responsibility is scarce. In this study, we explored how boards of directors describe how their board acts to take responsibility for OHS. A secondary aim was to analyze whether those actions represent governance according to the agency theory and/or the stewardship theory. The empirical material consisted of 34 interviews with board members and chief executive officers in large private companies from four industries: trade, construction, manufacturing, and health/social care. Using Boardman and Lyon's framework for OHS governance, we conducted a hybrid thematic analysis. The findings deepen and broaden the current understanding of the role that the board of directors may play in OHS governance in private companies. The boards’ actions for taking responsibility for OHS both represent governance in line with the agency theory and stewardship theory. However, the boards’ actions also underpin a behavioral view of corporate OHS governance. This suggests an influence on the organization that starts with actions in the boardroom and, like champagne in a glass tower, trickles down from the executive directors to other layers of the organization.
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  • Sipeky, C, et al. (author)
  • 4th ESPT Conference: pharmacogenomics and personalized medicine - research progress and clinical implementation
  • 2019
  • In: Pharmacogenomics. - : Future Medicine Ltd. - 1744-8042 .- 1462-2416. ; 20:15, s. 1063-1069
  • Journal article (peer-reviewed)abstract
    • The Fourth European Society of Pharmacogenomics and Personalized Therapy biennial conference was organized in collaboration with the Italian Society of Personalized Medicine (SIMeP) and was held at Benedictine Monastery of San Nicolò l’Arena in Catania, Sicily (Italy) on 4–7 October 2017. The congress addressed the research progress and clinical implementation in pharmacogenomics and personalized medicine. The Fourth European Society of Pharmacogenomics and Personalized Therapy congress brought together leading international scientists and healthcare professionals actively working in the fields of pharmacogenomics and personalized therapy. Altogether, 25 speakers in 15 session comprehensively covered broad spectrum of pharmacogenetics and pharmacogenomics research, clinical applications in different clinical disciplines attended by 270 delegates.
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  • Sundberg, C, et al. (author)
  • Comparison of the potencies of (+)- and (-)-2-ethylhexanoic acid in causing peroxisome proliferation and related biological effects in mouse liver.
  • 1994
  • In: Chirality. - : Wiley. - 0899-0042 .- 1520-636X. ; 6:1
  • Journal article (peer-reviewed)abstract
    • Male C57BL/6 mice were exposed to 1% (w/w) (+)- or (-)-2-ethylhexanoic acid or an equimolar mixture of these enantiomers in their diet for 4 or 10 days. A significant increase in liver weight and a 2- to 3-fold increase in the protein content of the mitochondrial fraction were seen in all cases. Peroxisomal palmitoyl-CoA oxidation was increased 2- to 3.5-fold after 4 days of treatment and 4- to 5-fold after 10 days, while the corresponding increases in peroxisomal lauroyl-CoA oxidase activity were 2- to 3-fold and 9- to 12-fold, respectively. Peroxisomal catalase activity was unchanged, whereas the microsomal and cytosolic activities were increased 2- to 3-fold and 6- to 16-fold, respectively. These treatments also induced microsomal omega-hydroxylation of lauric acid 7-fold and soluble epoxide hydrolase activity in the mitochondrial and cytosolic fractions, as well as microsomal epoxide hydrolase activity about 50-100%. The only significant differences observed between the effects of (+)-2-ethylhexanoic acid and its (-)-enantiomer were on peroxisomal palmitoyl-CoA oxidation and lauroyl-CoA oxidase activity after 4 days of treatment. In both these cases the (+)-enantiomer resulted in increases which were 50-75% greater than those seen with the (-)-form.
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  • Sundberg, Torbjörn, et al. (author)
  • Small recoverable payload for deployable sounding rocket experiments
  • 2009
  • In: Proceedings of the 19th Esa Symposium on European Rocket and Balloon Programmes and Related Research. - 9789292212353 ; , s. 281-284
  • Conference paper (peer-reviewed)abstract
    • We present a design of a small payload for deployment from sounding rockets. The payload is intended for measurements in the ionosphere and the acquired data is stored onboard. For a secure recovery of the data and possible re-use of the payload, an inflatable structure is deployed during the payload descent. This reduces the payload speed and protects it from ground impact. On the ground, a localization system is activated, sending the payload position via a satellite link, and providing a radio beacon signal. The proposed small payload will allow high time resolution multipoint measurements in the ionosphere with small separation distances, thus allowing to address a number of unresolved questions in the field.
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  • Varli, IH, et al. (author)
  • The Stockholm classification of stillbirth
  • 2008
  • In: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 87:11, s. 1202-1212
  • Journal article (peer-reviewed)
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  • Alström, Per, et al. (author)
  • Species delimitation based on multiple criteria : the Spotted Bush Warbler Bradypterus thoracicus complex (Aves : Megaluridae)
  • 2008
  • In: Zoological Journal of the Linnean Society. - : Oxford University Press (OUP). - 0024-4082 .- 1096-3642. ; 154:2, s. 291-307
  • Journal article (peer-reviewed)abstract
    • We demonstrate the importance of using multiple criteria in species delimitations, whatever the conceptual base for species delimitation. We do this by studying plumage, biometrics, egg coloration, song, mitochondrial DNA and habitat/altitudinal distribution in the Spotted Bush Warbler Bradypterus thoracicus (Blyth) complex, and by conducting playback experiments. Taxa that we suggest are best treated as separate species [B. thoracicus (Blyth), B. davidi (La Touche) and B. kashmirensis (Sushkin)] differ in most or all of these aspects, particularly in song and mitochondrial DNA, while those that we treat as subspecies (suschkini) or synonyms (przevalskii) differ slightly and only in morphology.
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