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

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Publikationen

Suchbegriffe: SEQUENCE ANALYSIS, DNA - , . Treffer: 173

2017

Blachowicz, A; Mayer, T; Bashir, M; Pieber, TR; De León, P; Venkateswaran, K Human presence impacts fungal diversity of inflated lunar/Mars analog habitat.
Microbiome. 2017; 5(1):62-62 [OPEN ACCESS]
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Byrgazov, K; Kastner, R; Gorna, M; Hoermann, G; Koenig, M; Lucini, CB; Ulreich, R; Benesch, M; Strenger, V; Lackner, H; Schwinger, W; Sovinz, P; Haas, OA; van den Heuvel-Eibrink, M; Niemeyer, CM; Hantschel, O; Valent, P; Superti-Furga, G; Urban, C; Dworzak, MN; Lion, T NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors.
Leukemia. 2017; 31(1):237-240 [OPEN ACCESS]
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Freystetter, A; Paar, C; Stekel, H; Berg, J Armored DNA in recombinant Baculoviruses as controls in molecular genetic assays.
Appl Microbiol Biotechnol. 2017; 101(19):7259-7269 [OPEN ACCESS]
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Gong, JY; Setchell, KDR; Zhao, J; Zhang, W; Wolfe, B; Lu, Y; Lackner, K; Knisely, AS; Wang, NL; Hao, CZ; Zhang, MH; Wang, JS Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr. 2017; 65(5):561-568
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Kashofer, K; Regauer, S Analysis of full coding sequence of the TP53 gene in invasive vulvar cancers: Implications for therapy.
GYNECOL ONCOL. 2017; 146(2): 314-318.
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März, W; Grammer, TB; Delgado, G; Kleber, ME [Congenital disorders of lipoprotein metabolism].
Herz. 2017; 42(5):449-458 [OPEN ACCESS]
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Thannesberger, J; Hellinger, HJ; Klymiuk, I; Kastner, MT; Rieder, FJJ; Schneider, M; Fister, S; Lion, T; Kosulin, K; Laengle, J; Bergmann, M; Rattei, T; Steininger, C Viruses comprise an extensive pool of mobile genetic elements in eukaryote cell cultures and human clinical samples.
FASEB J. 2017; 31(5):1987-2000 [OPEN ACCESS]
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2016

Arora, N; Schuenemann, VJ; Jäger, G; Peltzer, A; Seitz, A; Herbig, A; Strouhal, M; Grillová, L; Sánchez-Busó, L; Kühnert, D; Bos, KI; Davis, LR; Mikalová, L; Bruisten, S; Komericki, P; French, P; Grant, PR; Pando, MA; Vaulet, LG; Fermepin, MR; Martinez, A; Centurion Lara, A; Giacani, L; Norris, SJ; Šmajs, D; Bosshard, PP; González-Candelas, F; Nieselt, K; Krause, J; Bagheri, HC Origin of modern syphilis and emergence of a pandemic Treponema pallidum cluster.
Nat Microbiol. 2016; 2(368):16245-16245 [OPEN ACCESS]
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Bashir, M; Prietl, B; Tauschmann, M; Mautner, SI; Kump, PK; Treiber, G; Wurm, P; Gorkiewicz, G; Högenauer, C; Pieber, TR Effects of high doses of vitamin D3 on mucosa-associated gut microbiome vary between regions of the human gastrointestinal tract.
Eur J Nutr. 2016; 55(4):1479-1489 [OPEN ACCESS]
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Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E mFast-SeqS as a Monitoring and Pre-screening Tool for Tumor-Specific Aneuploidy in Plasma DNA.
Adv Exp Med Biol. 2016; 924:147-155
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Biundo, A; Hromic, A; Pavkov-Keller, T; Gruber, K; Quartinello, F; Haernvall, K; Perz, V; Arrell, MS; Zinn, M; Ribitsch, D; Guebitz, GM Characterization of a poly(butylene adipate-co-terephthalate)- hydrolyzing lipase from Pelosinus fermentans.
Appl Microbiol Biotechnol. 2016; 100(4): 1753-1764. [OPEN ACCESS]
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Dutta, S; Krause, A; Vosberg, S; Herold, T; Ksienzyk, B; Quintanilla-Martinez, L; Tizazu, B; Chopra, M; Graf, A; Krebs, S; Blum, H; Greif, PA; Vetter, A; Metzeler, K; Rothenberg-Thurley, M; Schneider, MR; Dahlhoff, M; Spiekermann, K; Zimber-Strobl, U; Wolf, E; Bohlander, SK The target cell of transformation is distinct from the leukemia stem cell in murine CALM/AF10 leukemia models.
Leukemia. 2016; 30(5):1166-1176
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Iotchkova, V; Huang, J; Morris, JA; Jain, D; Barbieri, C; Walter, K; Min, JL; Chen, L; Astle, W; Cocca, M; Deelen, P; Elding, H; Farmaki, AE; Franklin, CS; Franberg, M; Gaunt, TR; Hofman, A; Jiang, T; Kleber, ME; Lachance, G; Luan, J; Malerba, G; Matchan, A; Mead, D; Memari, Y; Ntalla, I; Panoutsopoulou, K; Pazoki, R; Perry, JRB; Rivadeneira, F; Sabater-Lleal, M; Sennblad, B; Shin, SY; Southam, L; Traglia, M; van Dijk, F; van Leeuwen, EM; Zaza, G; Zhang, W; UK10K Consortium; Amin, N; Butterworth, A; Chambers, JC; Dedoussis, G; Dehghan, A; Franco, OH; Franke, L; Frontini, M; Gambaro, G; Gasparini, P; Hamsten, A; Issacs, A; Kooner, JS; Kooperberg, C; Langenberg, C; Marz, W; Scott, RA; Swertz, MA; Toniolo, D; Uitterlinden, AG; van Duijn, CM; Watkins, H; Zeggini, E; Maurano, MT; Timpson, NJ; Reiner, AP; Auer, PL; Soranzo, N Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nat Genet. 2016; 48(11):1303-1312 [OPEN ACCESS]
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Kawala, MA; Bohndorf, M; Graffmann, N; Wruck, W; Zatloukal, K; Adjaye, J Characterization of dermal fibroblast-derived iPSCs from a patient with low grade steatosis.
Stem Cell Res. 2016; 17(3):547-549 [OPEN ACCESS]
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Laghmani, K; Beck, BB; Yang, SS; Seaayfan, E; Wenzel, A; Reusch, B; Vitzthum, H; Priem, D; Demaretz, S; Bergmann, K; Duin, LK; Göbel, H; Mache, C; Thiele, H; Bartram, MP; Dombret, C; Altmüller, J; Nürnberg, P; Benzing, T; Levtchenko, E; Seyberth, HW; Klaus, G; Yigit, G; Lin, SH; Timmer, A; de Koning, TJ; Scherjon, SA; Schlingmann, KP; Bertrand, MJ; Rinschen, MM; de Backer, O; Konrad, M; Kömhoff, M Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016; 374(19): 1853-1863. (- Case Report) [OPEN ACCESS]
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Preuner, S; Barna, A; Frommlet, F; Czurda, S; Konstantin, B; Alikian, M; Machova Polakova, K; Sacha, T; Richter, J; Lion, T; Gabriel, C Quantitative Analysis of Mutant Subclones in Chronic Myeloid Leukemia: Comparison of Different Methodological Approaches.
Int J Mol Sci. 2016; 17(5): [OPEN ACCESS]
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Sturmberger, L; Chappell, T; Geier, M; Krainer, F; Day, KJ; Vide, U; Trstenjak, S; Schiefer, A; Richardson, T; Soriaga, L; Darnhofer, B; Birner-Gruenberger, R; Glick, BS; Tolstorukov, I; Cregg, J; Madden, K; Glieder, A Refined Pichia pastoris reference genome sequence.
J Biotechnol. 2016; 235(6):121-131 [OPEN ACCESS]
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Ulrich, S; Posch, U; Helmberg, W; Schlenke, P HLA-A*68:02:11, a new HLA-A*68 allele identified during family HLA typing.
HLA. 2016; 88(4):197-198
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Ulz, P; Belic, J; Graf, R; Auer, M; Lafer, I; Fischereder, K; Webersinke, G; Pummer, K; Augustin, H; Pichler, M; Hoefler, G; Bauernhofer, T; Geigl, JB; Heitzer, E; Speicher, MR Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer.
Nat Commun. 2016; 7(15):12008-12008 [OPEN ACCESS]
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Ulz, P; Thallinger, GG; Auer, M; Graf, R; Kashofer, K; Jahn, SW; Abete, L; Pristauz, G; Petru, E; Geigl, JB; Heitzer, E; Speicher, MR Inferring expressed genes by whole-genome sequencing of plasma DNA.
Nat Genet. 2016; 48(10):1273-1278
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Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135 [OPEN ACCESS]
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Zollner-Schwetz, I; Leitner, E; Plieschnegger, W; Semlitsch, G; Stepan, V; Reiter, L; Reicht, G; Mörth, E; Pavek, J; Parsché, P; Betterklieber, C; Atzmüller, D; Krause, R; Högenauer, C Primary resistance of Helicobacter pylori is still low in Southern Austria.
Int J Med Microbiol. 2016; 306(4):206-211
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2015

Bedenić, B; Beader, N; Godič-Torkar, K; Vranić-Ladavac, M; Luxner, J; Veir, Z; Grisold, AJ; Zarfel, G Nursing Home as a Reservoir of Carbapenem-Resistant Acinetobacter baumannii.
Microb Drug Resist. 2015; 21(3):270-278
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Belic, J; Koch, M; Ulz, P; Auer, M; Gerhalter, T; Mohan, S; Fischereder, K; Petru, E; Bauernhofer, T; Geigl, JB; Speicher, MR; Heitzer, E Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach.
Clin Chem. 2015; 61(6):838-849 [OPEN ACCESS]
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Görzer, I; Trajanoski, S; Popow-Kraupp, T; Puchhammer-Stöckl, E Analysis of human cytomegalovirus strain populations in urine samples of newborns by ultra deep sequencing.
J Clin Virol. 2015; 73(18):101-104
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Heitzer, E; Ulz, P; Geigl, JB Circulating tumor DNA as a liquid biopsy for cancer.
Clin Chem. 2015; 61(1):112-123 [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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Koskinen, K; Auvinen, P; Björkroth, KJ; Hultman, J Inconsistent Denoising and Clustering Algorithms for Amplicon Sequence Data.
J Comput Biol. 2015; 22(8):743-751
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Leitner, E; Kessler, HH Broad-range PCR for the identification of bacterial and fungal pathogens from blood: a sequencing approach.
Methods Mol Biol. 2015; 1237(1):129-138
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Niklas, N; Hafenscher, J; Barna, A; Wiesinger, K; Pröll, J; Dreiseitl, S; Preuner-Stix, S; Valent, P; Lion, T; Gabriel, C cFinder: definition and quantification of multiple haplotypes in a mixed sample.
BMC Res Notes. 2015; 8(9):422-422 [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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Schaller, S; Weinberger, J; Jimenez-Heredia, R; Danzer, M; Oberbauer, R; Gabriel, C; Winkler, SM ImmunExplorer (IMEX): a software framework for diversity and clonality analyses of immunoglobulins and T cell receptors on the basis of IMGT/HighV-QUEST preprocessed NGS data.
BMC Bioinformatics. 2015; 16(9):252-252 [OPEN ACCESS]
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UK10K Consortium; Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JR; Xu, C; Futema, M; Lawson, D; Iotchkova, V; Schiffels, S; Hendricks, AE; Danecek, P; Li, R; Floyd, J; Wain, LV; Barroso, I; Humphries, SE; Hurles, ME; Zeggini, E; Barrett, JC; Plagnol, V; Richards, JB; Greenwood, CM; Timpson, NJ; Durbin, R; Soranzo, N The UK10K project identifies rare variants in health and disease.
Nature. 2015; 526(7571):82-90 [OPEN ACCESS]
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Zuckermann, M; Hovestadt, V; Knobbe-Thomsen, CB; Zapatka, M; Northcott, PA; Schramm, K; Belic, J; Jones, DT; Tschida, B; Moriarity, B; Largaespada, D; Roussel, MF; Korshunov, A; Reifenberger, G; Pfister, SM; Lichter, P; Kawauchi, D; Gronych, J Somatic CRISPR/Cas9-mediated tumour suppressor disruption enables versatile brain tumour modelling.
Nat Commun. 2015; 6(3):7391-7391 [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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Asadollahi, R; Oneda, B; Joset, P; Azzarello-Burri, S; Bartholdi, D; Steindl, K; Vincent, M; Cobilanschi, J; Sticht, H; Baldinger, R; Reissmann, R; Sudholt, I; Thiel, CT; Ekici, AB; Reis, A; Bijlsma, EK; Andrieux, J; Dieux, A; FitzPatrick, D; Ritter, S; Baumer, A; Latal, B; Plecko, B; Jenni, OG; Rauch, A The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet. 2014; 51(10): 677-688. [OPEN ACCESS]
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Basmanav, FB; Oprisoreanu, AM; Pasternack, SM; Thiele, H; Fritz, G; Wenzel, J; Größer, L; Wehner, M; Wolf, S; Fagerberg, C; Bygum, A; Altmüller, J; Rütten, A; Parmentier, L; El Shabrawi-Caelen, L; Hafner, C; Nürnberg, P; Kruse, R; Schoch, S; Hanneken, S; Betz, RC Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Am J Hum Genet. 2014; 94(1):135-143 [OPEN ACCESS]
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Gabriel, C; Fürst, D; Faé, I; Wenda, S; Zollikofer, C; Mytilineos, J; Fischer, GF HLA typing by next-generation sequencing - getting closer to reality.
Tissue Antigens. 2014; 83(2): 65-75.
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Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014; 111(3): 342-352.
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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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Pabinger, S; Dander, A; Fischer, M; Snajder, R; Sperk, M; Efremova, M; Krabichler, B; Speicher, MR; Zschocke, J; Trajanoski, Z A survey of tools for variant analysis of next-generation genome sequencing data.
Brief Bioinform. 2014; 15(2):256-278 [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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Schabhüttl, M; Wieland, T; Senderek, J; Baets, J; Timmerman, V; De Jonghe, P; Reilly, MM; Stieglbauer, K; Laich, E; Windhager, R; Erwa, W; Trajanoski, S; Strom, TM; Auer-Grumbach, M Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
J Neurol. 2014; 261(5):970-982
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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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2013

Busam, KJ; Wanna, M; Wiesner, T Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome.
JAMA Dermatol. 2013; 149(3): 335-339. (- Case Report) [OPEN ACCESS]
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Griewank, KG; Westekemper, H; Murali, R; Mach, M; Schilling, B; Wiesner, T; Schimming, T; Livingstone, E; Sucker, A; Grabellus, F; Metz, C; Süsskind, D; Hillen, U; Speicher, MR; Woodman, SE; Steuhl, KP; Schadendorf, D Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Clin Cancer Res. 2013; 19(12):3143-3152 [OPEN ACCESS]
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Heitzer, E; Auer, M; Gasch, C; Pichler, M; Ulz, P; Hoffmann, EM; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Lackner, C; Höfler, G; Eisner, F; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing.
Cancer Res. 2013; 73(10):2965-2975 [OPEN ACCESS]
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Heitzer, E; Auer, M; Hoffmann, EM; Pichler, M; Gasch, C; Ulz, P; Lax, S; Waldispuehl-Geigl, J; Mauermann, O; Mohan, S; Pristauz, G; Lackner, C; Höfler, G; Eisner, F; Petru, E; Sill, H; Samonigg, H; Pantel, K; Riethdorf, S; Bauernhofer, T; Geigl, JB; Speicher, MR Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer.
Int J Cancer. 2013; 133(2):346-356 [OPEN ACCESS]
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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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