Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: MOLECULAR SEQUENCE DATA - , . Treffer: 297

2016

Anvarian, Z; Nojima, H; van Kappel, EC; Madl, T; Spit, M; Viertler, M; Jordens, I; Low, TY; van Scherpenzeel, RC; Kuper, I; Richter, K; Heck, AJ; Boelens, R; Vincent, JP; Rüdiger, SG; Maurice, MM Axin cancer mutants form nanoaggregates to rewire the Wnt signaling network.
Nat Struct Mol Biol. 2016; 23(4):324-332
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Khan, MA; Mohan, S; Zubair, M; Windpassinger, C Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10. [OPEN ACCESS]
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Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955 (- Case Report)
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Shabbir, MZ; Ali, M; Abbas, M; Chaudhry, UN; Zia-Ur-Rehman, UN; Munir, M Molecular characterization of infectious bursal disease viruses from Pakistan.
Arch Virol. 2016; 161(7):2001-2006
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Werten, S; Kohler, C; Bayer, NJ; Steinmetz, I; Hinrichs, W Structural analysis and knock-out of a Burkholderia pseudomallei homolog of the eukaryotic transcription coactivator PC4.
Gene. 2016; 577(2):140-147
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2015

Boch, T; Reinwald, M; Postina, P; Cornely, OA; Vehreschild, JJ; Heußel, CP; Heinz, WJ; Hoenigl, M; Eigl, S; Lehrnbecher, T; Hahn, J; Claus, B; Lauten, M; Egerer, G; Müller, MC; Will, S; Merker, N; Hofmann, WK; Buchheidt, D; Spiess, B Identification of invasive fungal diseases in immunocompromised patients by combining an Aspergillus specific PCR with a multifungal DNA-microarray from primary clinical samples.
Mycoses. 2015; 58(12):735-745
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Chromikova, V; Mader, A; Hofbauer, S; Göbl, C; Madl, T; Gach, JS; Bauernfried, S; Furtmüller, PG; Forthal, DN; Mach, L; Obinger, C; Kunert, R Introduction of germline residues improves the stability of anti-HIV mAb 2G12-IgM.
Biochim Biophys Acta. 2015; 1854(10 Pt A):1536-1544 [OPEN ACCESS]
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Haslbeck, V; Eckl, JM; Drazic, A; Rutz, DA; Lorenz, OR; Zimmermann, K; Kriehuber, T; Lindemann, C; Madl, T; Richter, K The activity of protein phosphatase 5 towards native clients is modulated by the middle- and C-terminal domains of Hsp90.
Sci Rep. 2015; 5(4):17058-17058 [OPEN ACCESS]
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Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710 (- Case Report) [OPEN ACCESS]
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Hocking, HG; Häse, F; Madl, T; Zacharias, M; Rief, M; Žoldák, G A compact native 24-residue supersecondary structure derived from the villin headpiece subdomain.
Biophys J. 2015; 108(3):678-686 [OPEN ACCESS]
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Kassner, U; Salewsky, B; Wühle-Demuth, M; Szijarto, IA; Grenkowitz, T; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Eur J Hum Genet. 2015; 23(9):1259-1261 (- Case Report) [OPEN ACCESS]
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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 (- Case Report) [OPEN ACCESS]
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Marino, J; Bordag, N; Keller, S; Zerbe, O Mistic's membrane association and its assistance in overexpression of a human GPCR are independent processes.
Protein Sci. 2015; 24(1): 38-48. [OPEN ACCESS]
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Meyer, NH; Mayerhofer, H; Tripsianes, K; Blindow, S; Barths, D; Mewes, A; Weimar, T; Köhli, T; Bade, S; Madl, T; Frey, A; Haas, H; Mueller-Dieckmann, J; Sattler, M; Schramm, G A Crystallin Fold in the Interleukin-4-inducing Principle of Schistosoma mansoni Eggs (IPSE/α-1) Mediates IgE Binding for Antigen-independent Basophil Activation.
J Biol Chem. 2015; 290(36): 22111-22126. [OPEN ACCESS]
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Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet. 2015; 16(7):41-41 (- Case Report) [OPEN ACCESS]
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Riedl, S; Leber, R; Rinner, B; Schaider, H; Lohner, K; Zweytick, D Human lactoferricin derived di-peptides deploying loop structures induce apoptosis specifically in cancer cells through targeting membranous phosphatidylserine.
Biochim Biophys Acta. 2015; 1848(11 Pt A):2918-2931 [OPEN ACCESS]
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Sahu-Osen, A; Montero-Moran, G; Schittmayer, M; Fritz, K; Dinh, A; Chang, YF; McMahon, D; Boeszoermenyi, A; Cornaciu, I; Russell, D; Oberer, M; Carman, GM; Birner-Gruenberger, R; Brasaemle, DL CGI-58/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization.
J Lipid Res. 2015; 56(1):109-121 [OPEN ACCESS]
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Tchoupa, AK; Lichtenegger, S; Reidl, J; Hauck, CR Outer membrane protein P1 is the CEACAM-binding adhesin of Haemophilus influenzae.
Mol Microbiol. 2015; 98(3):440-455 [OPEN ACCESS]
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Wagner, B; Melzer, H; Freymüller, G; Stumvoll, S; Rendi-Wagner, P; Paulke-Korinek, M; Repa, A; Mooi, FR; Kollaritsch, H; Mittermayer, H; Kessler, HH; Stanek, G; Steinborn, R; Duchêne, M; Wiedermann, U Genetic Variation of Bordetella pertussis in Austria.
PLoS One. 2015; 10(7):e0132623-e0132623 [OPEN ACCESS]
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Weinberger, J; Jimenez-Heredia, R; Schaller, S; Suessner, S; Sunzenauer, J; Reindl-Schwaighofer, R; Weiss, R; Winkler, S; Gabriel, C; Danzer, M; Oberbauer, R Immune Repertoire Profiling Reveals that Clonally Expanded B and T Cells Infiltrating Diseased Human Kidneys Can Also Be Tracked in Blood.
PLoS One. 2015; 10(11):e0143125-e0143125 [OPEN ACCESS]
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Wiesner, T; Lee, W; Obenauf, AC; Ran, L; Murali, R; Zhang, QF; Wong, EW; Hu, W; Scott, SN; Shah, RH; Landa, I; Button, J; Lailler, N; Sboner, A; Gao, D; Murphy, DA; Cao, Z; Shukla, S; Hollmann, TJ; Wang, L; Borsu, L; Merghoub, T; Schwartz, GK; Postow, MA; Ariyan, CE; Fagin, JA; Zheng, D; Ladanyi, M; Busam, KJ; Berger, MF; Chen, Y; Chi, P Alternative transcription initiation leads to expression of a novel ALK isoform in cancer.
Nature. 2015; 526(7573):453-457 [OPEN ACCESS]
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2014

Akilzhanova, A; Guelly, C; Nuralinov, O; Nurkina, Z; Nazhat, D; Smagulov, S; Tursunbekov, A; Alzhanova, A; Rashbayeva, G; Abdrakhmanov, A; Dosmagambet, S; Trajanoski, S; Zhumadilov, Z; Sharman, A; Bekbosynova, M RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
PLoS One. 2014; 9(6):e101059-e101059 (- Case Report) [OPEN ACCESS]
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Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023 [OPEN ACCESS]
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Delporte, C; Boudjeltia, KZ; Noyon, C; Furtmüller, PG; Nuyens, V; Slomianny, MC; Madhoun, P; Desmet, JM; Raynal, P; Dufour, D; Koyani, CN; Reyé, F; Rousseau, A; Vanhaeverbeek, M; Ducobu, J; Michalski, JC; Nève, J; Vanhamme, L; Obinger, C; Malle, E; Van Antwerpen, P Impact of myeloperoxidase-LDL interactions on enzyme activity and subsequent posttranslational oxidative modifications of apoB-100.
J Lipid Res. 2014; 55(4):747-757 [OPEN ACCESS]
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Etemad, S; Obermair, GJ; Bindreither, D; Benedetti, A; Stanika, R; Di Biase, V; Burtscher, V; Koschak, A; Kofler, R; Geley, S; Wille, A; Lusser, A; Flockerzi, V; Flucher, BE Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
J Neurosci. 2014; 34(4):1446-1461 [OPEN ACCESS]
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Karagöz, GE; Duarte, AM; Akoury, E; Ippel, H; Biernat, J; Morán Luengo, T; Radli, M; Didenko, T; Nordhues, BA; Veprintsev, DB; Dickey, CA; Mandelkow, E; Zweckstetter, M; Boelens, R; Madl, T; Rüdiger, SG Hsp90-Tau complex reveals molecular basis for specificity in chaperone action.
Cell. 2014; 156(5): 963-974. [OPEN ACCESS]
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Kastner, R; Zopf, A; Preuner, S; Pröll, J; Niklas, N; Foskett, P; Valent, P; Lion, T; Gabriel, C Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Eur J Cancer. 2014; 50(4): 793-800. [OPEN ACCESS]
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 [OPEN ACCESS]
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Kienesberger, S; Sprenger, H; Wolfgruber, S; Halwachs, B; Thallinger, GG; Perez-Perez, GI; Blaser, MJ; Zechner, EL; Gorkiewicz, G Comparative genome analysis of Campylobacter fetus subspecies revealed horizontally acquired genetic elements important for virulence and niche specificity.
PLoS One. 2014; 9(1):e85491-e85491 [OPEN ACCESS]
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Lee, W; Teckie, S; Wiesner, T; Ran, L; Prieto Granada, CN; Lin, M; Zhu, S; Cao, Z; Liang, Y; Sboner, A; Tap, WD; Fletcher, JA; Huberman, KH; Qin, LX; Viale, A; Singer, S; Zheng, D; Berger, MF; Chen, Y; Antonescu, CR; Chi, P PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.
Nat Genet. 2014; 46(11): 1227-1232. [OPEN ACCESS]
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Lichtenegger, M; Groschner, K TRPC3: a multifunctional signaling molecule.
Handb Exp Pharmacol. 2014; 222: 67-84.
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Liu, L; Huang, C; He, ZG A TetR family transcriptional factor directly regulates the expression of a 3-methyladenine DNA glycosylase and physically interacts with the enzyme to stimulate its base excision activity in Mycobacterium bovis BCG.
J Biol Chem. 2014; 289(13):9065-9075 [OPEN ACCESS]
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Niklas, N; Pröll, J; Weinberger, J; Zopf, A; Wiesinger, K; Krismer, K; Bettelheim, P; Gabriel, C Qualifying high-throughput immune repertoire sequencing.
Cell Immunol. 2014; 288(1-2): 31-38.
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Polin, H; Gaszner, W; Suessner, S; Danzer, M; Gabriel, C Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Transfusion. 2014; 54(8): 2130-2131.
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Probst, AJ; Weinmaier, T; Raymann, K; Perras, A; Emerson, JB; Rattei, T; Wanner, G; Klingl, A; Berg, IA; Yoshinaga, M; Viehweger, B; Hinrichs, KU; Thomas, BC; Meck, S; Auerbach, AK; Heise, M; Schintlmeister, A; Schmid, M; Wagner, M; Gribaldo, S; Banfield, JF; Moissl-Eichinger, C Biology of a widespread uncultivated archaeon that contributes to carbon fixation in the subsurface.
Nat Commun. 2014; 5(12):5497-5497 [OPEN ACCESS]
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Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet. 2014; 15(10):107-107 (- Case Report) [OPEN ACCESS]
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Sammar, M; Nisamblatt, S; Gonen, R; Huppertz, B; Gizurarson, S; Osol, G; Meiri, H The role of the carbohydrate recognition domain of placental protein 13 (PP13) in pregnancy evaluated with recombinant PP13 and the DelT221 PP13 variant.
PLoS One. 2014; 9(7):e102832-e102832 [OPEN ACCESS]
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Schneditz, G; Rentner, J; Roier, S; Pletz, J; Herzog, KA; Bücker, R; Troeger, H; Schild, S; Weber, H; Breinbauer, R; Gorkiewicz, G; Högenauer, C; Zechner, EL Enterotoxicity of a nonribosomal peptide causes antibiotic-associated colitis.
Proc Natl Acad Sci U S A. 2014; 111(36):13181-13186 [OPEN ACCESS]
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Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191 [OPEN ACCESS]
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Shah, MH; Bhat, V; Shetty, JS; Kumar, A Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014; 20(4):790-796 (- Case Report) [OPEN ACCESS]
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Wiesner, T; He, J; Yelensky, R; Esteve-Puig, R; Botton, T; Yeh, I; Lipson, D; Otto, G; Brennan, K; Murali, R; Garrido, M; Miller, VA; Ross, JS; Berger, MF; Sparatta, A; Palmedo, G; Cerroni, L; Busam, KJ; Kutzner, H; Cronin, MT; Stephens, PJ; Bastian, BC Kinase fusions are frequent in Spitz tumours and spitzoid melanomas.
Nat Commun. 2014; 5(5):3116-3116 [OPEN ACCESS]
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2013

Bublin, M; Kostadinova, M; Radauer, C; Hafner, C; Szépfalusi, Z; Varga, EM; Maleki, SJ; Hoffmann-Sommergruber, K; Breiteneder, H IgE cross-reactivity between the major peanut allergen Ara h 2 and the nonhomologous allergens Ara h 1 and Ara h 3.
J Allergy Clin Immunol. 2013; 132(1): 118-124. [OPEN ACCESS]
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Derler, I; Plenk, P; Fahrner, M; Muik, M; Jardin, I; Schindl, R; Gruber, HJ; Groschner, K; Romanin, C The extended transmembrane Orai1 N-terminal (ETON) region combines binding interface and gate for Orai1 activation by STIM1.
J Biol Chem. 2013; 288(40):29025-29034 [OPEN ACCESS]
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Eißmann, M; Melzer, IM; Fernández, SB; Michel, G; Hrabě de Angelis, M; Hoefler, G; Finkenwirth, P; Jauch, A; Schoell, B; Grez, M; Schmidt, M; Bartholomae, CC; Newrzela, S; Haetscher, N; Rieger, MA; Zachskorn, C; Mittelbronn, M; Zörnig, M Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
Oncogene. 2013; 32(20):2586-2591
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Fischer, C; Koblmüller, S; Gülly, C; Schlötterer, C; Sturmbauer, C; Thallinger, GG Complete mitochondrial DNA sequences of the threadfin cichlid (Petrochromis trewavasae) and the blunthead cichlid (Tropheus moorii) and patterns of mitochondrial genome evolution in cichlid fishes.
PLoS One. 2013; 8(6):e67048-e67048 [OPEN ACCESS]
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Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet. 2013; 93(6):1118-1125 (- Case Report) [OPEN ACCESS]
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Haas, D; Pfeifer, B; Reiterich, C; Partenheimer, R; Reck, B; Buzina, W Identification and quantification of fungi and mycotoxins from Pu-erh tea.
Int J Food Microbiol. 2013; 166(2):316-322
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Kueh, JT; Choi, KW; Williams, GM; Moehle, K; Bacsa, B; Robinson, JA; Brimble, MA Synthesis of a 6,6-spiroketal amino acid and its incorporation into a peptide turn sequence using solid-phase peptide synthesis.
Chemistry. 2013; 19(12): 3807-3811.
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Leitner, E; Valentin, T; Hoenigl, M; Lanz, P; Flick, H; Zollner-Schwetz, I; Grisold, AJ; Feierl, G; Krause, R First report of Nocardia asiatica olecranon bursitis in an immunocompetent traveler returning to Austria.
J Clin Microbiol. 2013; 51(7):2461-2462 (- Case Report) [OPEN ACCESS]
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Lichtenegger, M; Stockner, T; Poteser, M; Schleifer, H; Platzer, D; Romanin, C; Groschner, K A novel homology model of TRPC3 reveals allosteric coupling between gate and selectivity filter.
Cell Calcium. 2013; 54(3):175-185 [OPEN ACCESS]
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