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1.
  • Juhlin, Christopher, et al. (författare)
  • Innovative Exploration Drilling and Data Acquisition Test Center: First Geophysical Site Survey
  • 2019
  • Konferensbidrag (refereegranskat)abstract
    • Innovative Exploration Drilling and Data Acquisition (I-EDDA) was a Network of Infrastructure in the European Institute of Innovation & Technology (EIT) Knowledge and Innovation Community (KIC) "Raw Materials", running from 2016 to 2018. Its purpose was to unite partners from academia and industry to jointly address challenges that are expected to increase the value of mineral exploration related operations. The I-EDDA test center (I-EDDA-TC) is an outcome of I-EDDA and will allow real-world test drilling to verify improved and new technologies and provide critical feedback to the engineers. Improved or newly developed technology needs to be tested under real-world conditions and in an operational setting. However, a dedicated and well-characterised test site for diamond core-drilling from the surface and with realistic conditions is missing. I-EDDA-TC will include excellent access to infrastructure, workshop facilities and proximity to expertise in drilling. The planned test site location in Örebro (south-central Sweden) is easily accessible and is situated in Paleoproterozoic bedrock (gneisses and metasediments), similar to the bedrock of many mining districts that are located in crystalline rock. The test site is planned to cover an area of approximately 4000 m2. Characterisation of the physical and chemical parameters in the subsurface performed within I-EDDA-TC will allow for an integrated interpretation of technical and geoscientific test results. Geophysical investigations will be combined with a suite of fully-cored exploration boreholes of varying depth (some down to at least 1 km), as well as downhole and laboratory investigations. A long-term utilization of the test facility will be the ultimate goal, including an invitation to the research community and to companies to partake. In July 2019 the first geophysical surveys over the site were preformed, consisting of ground magnetics, geo-electrics, a small high resolution 3D seismic survey and a deeper 2D survey using a large vibrator source. The acquired data will form the basis for future geophysical and geochemical surveys and, ultimately, for planning test boreholes for advancing drilling methods and downhole measurements. We report here on first results from these measurements.
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3.
  • Stattin, Eva-Lena, et al. (författare)
  • Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
  • 2009
  • Ingår i: European Journal of Medical Genetics. - : Elsevier. - 1769-7212 .- 1878-0849. ; 52:5, s. 297-302
  • Tidskriftsartikel (refereegranskat)abstract
    • Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. The condition is caused by heterozygous mutations in the Indian hedgehog (IHH) gene or a yet unidentified gene on chromosome 5p13. We investigated six affected members of a large Swedish family segregating autosomal dominant brachymesophalangia. Affected individuals show hypoplasia of the ulnar styloid processes, ulna minus, osteoarthritis, normal length of all distal phalanges and shortening or absence of the middle phalanges. Stationary ossicles or sesamoid bones were observed at the metacarpal heads in all patients. Genetic analysis of the family showed that the IHH-gene was linked to the disease (Z(max) 3.42 at theta 0.00) and sequence analysis of IHH revealed a novel c.472C > T transition in all affected family members. The mutation results in a p.158Arg > Cys substitution located in the highly conserved amino-terminal domain of IHH. This domain is of importance for the interaction between IHH and the Patched receptor. Our combined findings add radiological findings to the BDA1 phenotype and confirm a critical functional domain of IHH.
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  • Resultat 1-4 av 4

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