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

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Publikationen

Suchbegriffe: SEQUENCE ANALYSIS, DNA - , . Treffer: 65

2017

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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2016

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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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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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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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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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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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)
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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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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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Meyer, FR; Grausgruber, H; Binter, C; Mair, GE; Guelly, C; Vogl, C; Steinborn, R Cross-platform microarray meta-analysis for the mouse jejunum selects novel reference genes with highly uniform levels of expression.
PLoS One. 2013; 8(5):e63125-e63125 [OPEN ACCESS]
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Probst, AJ; Auerbach, AK; Moissl-Eichinger, C Archaea on human skin.
PLoS One. 2013; 8(6):e65388-e65388 [OPEN ACCESS]
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Vaishampayan, P; Moissl-Eichinger, C; Pukall, R; Schumann, P; Spröer, C; Augustus, A; Roberts, AH; Namba, G; Cisneros, J; Salmassi, T; Venkateswaran, K Description of Tersicoccus phoenicis gen. nov., sp. nov. isolated from spacecraft assembly clean room environments.
Int J Syst Evol Microbiol. 2013; 63(Pt 7):2463-2471
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2012

Dufke, C; Schlipf, N; Schule, R; Bonin, M; Auer-Grumbach, M; Stevanin, G; Depienne, C; Kassubek, J; Klebe, S; Klimpe, S; Klopstock, T; Otto, S; Poths, S; Seibel, A; Stolze, H; Gal, A; Schols, L; Bauer, P; A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
NEUROGENETICS. 2012; 13(3): 215-227.
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Kola, A; Kohler, C; Pfeifer, Y; Schwab, F; Kühn, K; Schulz, K; Balau, V; Breitbach, K; Bast, A; Witte, W; Gastmeier, P; Steinmetz, I High prevalence of extended-spectrum-β-lactamase-producing Enterobacteriaceae in organic and conventional retail chicken meat, Germany.
J ANTIMICROB CHEMOTH. 2012; 67(11): 2631-2634.
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Rinner, B; Gallè, B; Trajanoski, S; Fischer, C; Hatz, M; Maierhofer, T; Michelitsch, G; Moinfar, F; Stelzer, I; Pfragner, R; Guelly, C Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
BMC Genomics. 2012; 13(6):594-594 [OPEN ACCESS]
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Ritari, J; Koskinen, K; Hultman, J; Kurola, JM; Kymäläinen, M; Romantschuk, M; Paulin, L; Auvinen, P Molecular analysis of meso- and thermophilic microbiota associated with anaerobic biowaste degradation.
BMC Microbiol. 2012; 12: 121-121. [OPEN ACCESS]
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Sayers, EW; Barrett, T; Benson, DA; Bolton, E; Bryant, SH; Canese, K; Chetvernin, V; Church, DM; Dicuccio, M; Federhen, S; Feolo, M; Fingerman, IM; Geer, LY; Helmberg, W; Kapustin, Y; Krasnov, S; Landsman, D; Lipman, DJ; Lu, Z; Madden, TL; Madej, T; Maglott, DR; Marchler-Bauer, A; Miller, V; Karsch-Mizrachi, I; Ostell, J; Panchenko, A; Phan, L; Pruitt, KD; Schuler, GD; Sequeira, E; Sherry, ST; Shumway, M; Sirotkin, K; Slotta, D; Souvorov, A; Starchenko, G; Tatusova, TA; Wagner, L; Wang, Y; Wilbur, WJ; Yaschenko, E; Ye, J Database resources of the National Center for Biotechnology Information.
Nucleic Acids Res. 2012; 40(Database issue):D13-D25 [OPEN ACCESS]
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2011

Aigelsreiter, A; Gerlza, T; Deutsch, AJ; Leitner, E; Beham-Schmid, C; Beham, A; Popper, H; Borel, N; Pospischil, A; Raderer, M; Kessler, HH; Neumeister, P Chlamydia psittaci Infection in nongastrointestinal extranodal MALT lymphomas and their precursor lesions.
Am J Clin Pathol. 2011; 135(1): 70-75. [OPEN ACCESS]
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Brandt, S; Apprich, V; Hackl, V; Tober, R; Danzer, M; Kainzbauer, C; Gabriel, C; Stanek, C; Kofler, J Prevalence of bovine papillomavirus and Treponema DNA in bovine digital dermatitis lesions.
Vet Microbiol. 2011; 148(2-4): 161-167.
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Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 [OPEN ACCESS]
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Kienesberger, S; Schober Trummler, C; Fauster, A; Lang, S; Sprenger, H; Gorkiewicz, G; Zechner, EL Interbacterial macromolecular transfer by the Campylobacter fetus subsp. venerealis type IV secretion system.
J Bacteriol. 2011; 193(3):744-758 [OPEN ACCESS]
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Koskinen, K; Hultman, J; Paulin, L; Auvinen, P; Kankaanpää, H Spatially differing bacterial communities in water columns of the northern Baltic Sea.
FEMS Microbiol Ecol. 2011; 75(1): 99-110. [OPEN ACCESS]
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Maritschnegg, P; Sovinz, P; Lackner, H; Benesch, M; Nebl, A; Schwinger, W; Walochnik, J; Urban, C Granulomatous amebic encephalitis in a child with acute lymphoblastic leukemia successfully treated with multimodal antimicrobial therapy and hyperbaric oxygen.
J Clin Microbiol. 2011; 49(1): 446-448. [OPEN ACCESS]
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Pansuriya, TC; van Eijk, R; d'Adamo, P; van Ruler, MA; Kuijjer, ML; Oosting, J; Cleton-Jansen, AM; van Oosterwijk, JG; Verbeke, SL; Meijer, D; van Wezel, T; Nord, KH; Sangiorgi, L; Toker, B; Liegl-Atzwanger, B; San-Julian, M; Sciot, R; Limaye, N; Kindblom, LG; Daugaard, S; Godfraind, C; Boon, LM; Vikkula, M; Kurek, KC; Szuhai, K; French, PJ; Bove, JV Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
NAT GENET. 2011; 43(12): 1256-1261. [OPEN ACCESS]
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Pippal, JB; Cheung, CM; Yao, YZ; Brennan, FE; Fuller, PJ Characterization of the zebrafish (Danio rerio) mineralocorticoid receptor.
Mol Cell Endocrinol. 2011; 332(1-2):58-66
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Prokesch, A; Bogner-Strauss, JG; Hackl, H; Rieder, D; Neuhold, C; Walenta, E; Krogsdam, A; Scheideler, M; Papak, C; Wong, WC; Vinson, C; Eisenhaber, F; Trajanoski, Z Arxes: retrotransposed genes required for adipogenesis.
Nucleic Acids Res. 2011; 39(8): 3224-3239. [OPEN ACCESS]
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Raggam, RB; Salzer, HJF; Marth, E; Heiling, B; Paulitsch, AH; Buzina, W Molecular detection and characterisation of fungal heat shock protein 60
Mycoses. 2011; 54(5):e394-e399
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Tatton-Brown, K; Hanks, S; Ruark, E; Zachariou, A; Duarte, Sdel V; Ramsay, E; Snape, K; Murray, A; Perdeaux, ER; Seal, S; Loveday, C; Banka, S; Clericuzio, C; Flinter, F; Magee, A; McConnell, V; Patton, M; Raith, W; Rankin, J; Splitt, M; Strenger, V; Taylor, C; Wheeler, P; Temple, KI; Cole, T; Childhood Overgrowth Collaboration; Douglas, J; Rahman, N Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget. 2011; 2(12):1127-1133 [OPEN ACCESS]
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Zimmermann, FA; Mayr, JA; Feichtinger, R; Neureiter, D; Lechner, R; Koegler, C; Ratschek, M; Rusmir, H; Sargsyan, K; Sperl, W; Kofler, B Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.
Front Biosci (Elite Ed). 2011; 3(4): 315-325.
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2010

Behrendt, U; Schumann, P; Stieglmeier, M; Pukall, R; Augustin, J; Spröer, C; Schwendner, P; Moissl-Eichinger, C; Ulrich, A Characterization of heterotrophic nitrifying bacteria with respiratory ammonification and denitrification activity--description of Paenibacillus uliginis sp. nov., an inhabitant of fen peat soil and Paenibacillus purispatii sp. nov., isolated from a spacecraft assembly clean room.
Syst Appl Microbiol. 2010; 33(6):328-336
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Gorkiewicz, G; Kienesberger, S; Schober, C; Scheicher, SR; Gülly, C; Zechner, R; Zechner, EL A genomic island defines subspecies-specific virulence features of the host-adapted pathogen Campylobacter fetus subsp. venerealis.
J Bacteriol. 2010; 192(2): 502-517. [OPEN ACCESS]
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Zimon, M; Baets, J; Auer-Grumbach, M; Berciano, J; Garcia, A; Lopez-Laso, E; Merlini, L; Hilton-Jones, D; McEntagart, M; Crosby, AH; Barisic, N; Boltshauser, E; Shaw, CE; Landoure, G; Ludlow, CL; Gaudet, R; Houlden, H; Reilly, MM; Fischbeck, KH; Sumner, CJ; Timmerman, V; Jordanova, A; De Jonghe, P Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
BRAIN. 2010; 133(Pt 6): 1798-1809. [OPEN ACCESS]
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2009

Amoozegar, MA; Sánchez-Porro, C; Rohban, R; Hajighasemi, M; Ventosa, A Bacillus persepolensis sp. nov., a moderately halophilic bacterium from a hypersaline lake.
Int J Syst Evol Microbiol. 2009; 59(Pt 9): 2352-2358. [OPEN ACCESS]
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Rohban, R; Amoozegar, MA; Ventosa, A Screening and isolation of halophilic bacteria producing extracellular hydrolyses from Howz Soltan Lake, Iran.
J Ind Microbiol Biotechnol. 2009; 36(3): 333-340.
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Stieglmeier, M; Wirth, R; Kminek, G; Moissl-Eichinger, C Cultivation of anaerobic and facultatively anaerobic bacteria from spacecraft-associated clean rooms.
Appl Environ Microbiol. 2009; 75(11):3484-3491 [OPEN ACCESS]
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Strenger, V; Müller, M; Richter, S; Revilla-Fernandez, S; Nitsche, A; Klee, SR; Ellerbrok, H; Zenz, W A 17-Year-Old Girl with a Black Eschar: (Answer on pages 133-4).
Clin Infect Dis. 2009; 48(1): 133- 134 (- Case Report) [OPEN ACCESS]
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2008

Antunes, A; Taborda, M; Huber, R; Moissl, C; Nobre, MF; da Costa, MS Halorhabdus tiamatea sp. nov., a non-pigmented, extremely halophilic archaeon from a deep-sea, hypersaline anoxic basin of the Red Sea, and emended description of the genus Halorhabdus.
Int J Syst Evol Microbiol. 2008; 58(Pt 1):215-220 [OPEN ACCESS]
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Schule, R; Kremer, BPH; Kassubek, J; Auer-Grumbach, M; Kostic, V; Klopstock, T; Klimpe, S; Otto, S; Boesch, S; van de Warrenburg, BP; Schols, L SPG10 is a rare cause of spastic paraplegia in European families.
J Neurol Neurosurg Psychiatry. 2008; 79(5):584-587
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Seidl, H; Weger, W; Wolf, P; Kerl, H; Schaider, H Lack of oncogenic mutations in the c-Met catalytic tyrosine kinase domain in acral lentiginous melanoma.
Int J Dermatol. 2008; 47(12): 1327-1329.
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2007

Holtfreter, S; Grumann, D; Schmudde, M; Nguyen, HT; Eichler, P; Strommenger, B; Kopron, K; Kolata, J; Giedrys-Kalemba, S; Steinmetz, I; Witte, W; Bröker, BM Clonal distribution of superantigen genes in clinical Staphylococcus aureus isolates.
J CLIN MICROBIOL. 2007; 45(8): 2669-2680. [OPEN ACCESS]
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Osman, S; Moissl, C; Hosoya, N; Briegel, A; Mayilraj, S; Satomi, M; Venkateswaran, K Tetrasphaera remsis sp. nov., isolated from the Regenerative Enclosed Life Support Module Simulator (REMS) air system.
Int J Syst Evol Microbiol. 2007; 57(Pt 12):2749-2753 [OPEN ACCESS]
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Ugurel, S; Thirumaran, RK; Bloethner, S; Gast, A; Sucker, A; Mueller-Berghaus, J; Rittgen, W; Hemminki, K; Becker, JC; Kumar, R; Schadendorf, D B-RAF and N-RAS Mutations Are Preserved during Short Time In Vitro Propagation and Differentially Impact Prognosis
PLOS ONE. 2007; 2(2): [OPEN ACCESS]
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2006

Danzer, M; Polin, H; Faé, I; Fischer, GF; Gabriel, C Exon 1-4 sequence analysis of a novel HLA-A allele, HLA-A*2458.
Tissue Antigens. 2006; 68(2): 177-178.
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