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

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Publikationen

Suchbegriffe: NEXT-GENERATION SEQUENCING, . Treffer: 70

2020

Berulava, T; Buchholz, E; Elerdashvili, V; Pena, T; Islam, MR; Lbik, D; Mohamed, BA; Renner, A; von Lewinski, D; Sacherer, M; Bohnsack, KE; Bohnsack, MT; Jain, G; Capece, V; Cleve, N; Burkhardt, S; Hasenfuss, G; Fischer, A; Toischer, K Changes in m6A RNA methylation contribute to heart failure progression by modulating translation.
Eur J Heart Fail. 2019; 221: [OPEN ACCESS]
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Biasin, V; Crnkovic, S; Sahu-Osen, A; Birnhuber, A; El Agha, E; Sinn, K; Klepetko, W; Olschewski, A; Bellusci, S; Marsh, LM; Kwapiszewska, G PDGFRα and αSMA mark two distinct mesenchymal cell populations involved in parenchymal and vascular remodeling in pulmonary fibrosis.
Am J Physiol Lung Cell Mol Physiol. 2020; 318(4):L684-L697 [OPEN ACCESS]
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Brčić, I; Yamani, F; Inwards, CY; Sumathi, V; Dodd, L; Kreiger, PA; Sittampalam, K; Allred, TR; Kashofer, K; Liegl-Atzwanger, B; Kerr, DA; Nielsen, GP; Rosenberg, AE Giant Cell Tumor of Bone With Cartilage Matrix: A Clinicopathologic Study of 17 Cases.
Am J Surg Pathol. 2020; 44(6): 748-756.
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Hinteregger, B; Loeffler, T; Flunkert, S; Neddens, J; Birner-Gruenberger, R; Bayer, TA; Madl, T; Hutter-Paier, B Transgene integration causes RARB downregulation in homozygous Tg4-42 mice.
Sci Rep. 2020; 10(1): 6377-6377. [OPEN ACCESS]
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Igrec, J; Brčić, I; Igrec, R; Bergovec, M; Kashofer, K; Fuchsjäger, M; Leithner, A; Liegl-Atzwanger, B Intraarticular Nodular Fasciitis of the Knee With MHY9-USP6 Fusion: A Case Report.
Int J Surg Pathol. 2020; 1066896920908054-1066896920908054.
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Lampignano, R; Neumann, MHD; Weber, S; Kloten, V; Herdean, A; Voss, T; Groelz, D; Babayan, A; Tibbesma, M; Schlumpberger, M; Chemi, F; Rothwell, DG; Wikman, H; Galizzi, J-P; Bergheim, IR; Russnes, H; Mussolin, B; Bonin, S; Voight, C; Musa, H; Pinzani, P; Lianidou, E; Brady, G; Speicher, MR; Pantel, K; Betsou, F, Schuuring, E; Kubista, M; Ammerlaan, W; Sprenger-Haussels, M; Schlange, T; Heitzer, E Multicenter Evaluation of Circulating Cell-Free DNA Extraction and Downstream Analyses for the Development of Standardized (Pre)analytical Work Flows
The Open Clinical Chemistry Journal. 2020; 66(1): 149-160.
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Skálová, A; Banečkova, M; Thompson, LDR; Ptáková, N; Stevens, TM; Brcic, L; Hyrcza, M; Michal, M; Simpson, RHW; Santana, T; Michal, M; Vaněček, T; Leivo, I Expanding the Molecular Spectrum of Secretory Carcinoma of Salivary Glands With a Novel VIM-RET Fusion.
Am J Surg Pathol. 2020; 9(3):
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Sunitsch, S; Reisinger, J; Abete, L; Kashofer, K; Regitnig, P Metaplastic papillary tumour of the fallopian tube, a rare entity, analysed by next-generation sequencing.
Histopathology. 2020; 76(6):923-924 [OPEN ACCESS]
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2019

Dinter, H; Bohnenberger, H; Beck, J; Bornemann-Kolatzki, K; Schütz, E; Küffer, S; Klein, L; Franks, TJ; Roden, A; Emmert, A; Hinterthaner, M; Marino, M; Brcic, L; Popper, H; Weis, CA; Pelosi, G; Marx, A; Ströbel, P Molecular Classification of Neuroendocrine Tumors of the Thymus.
J Thorac Oncol. 2019; 14(8):1472-1483 [OPEN ACCESS]
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Gallon, R; Mühlegger, B; Wenzel, SS; Sheth, H; Hayes, C; Aretz, S; Dahan, K; Foulkes, W; Kratz, CP; Ripperger, T; Azizi, AA; Baris Feldman, H; Chong, AL; Demirsoy, U; Florkin, B; Imschweiler, T; Januszkiewicz-Lewandowska, D; Lobitz, S; Nathrath, M; Pander, HJ; Perez-Alonso, V; Perne, C; Ragab, I; Rosenbaum, T; Rueda, D; Seidel, MG; Suerink, M; Taeubner, J; Zimmermann, SY; Zschocke, J; Borthwick, GM; Burn, J; Jackson, MS; Santibanez-Koref, M; Wimmer, K A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat. 2019; 40(5):649-655 [OPEN ACCESS]
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Heitzer, E; Groenewoud, A; Meditz, K; Lohberger, B; Liegl-Atzwanger, B; Prokesch, A; Kashofer, K; Behrens, D; Haybaeck, J; Kolb-Lenz, D; Koefeler, H; Riedl, S; Schaider, H; Fischer, C; Snaar-Jagalska, BE; de'Jong, D; Szuhai, K; Zweytick, D; Rinner, B Human melanoma brain metastases cell line MUG-Mel1, isolated clones and their detailed characterization.
Sci Rep. 2019; 9(1):4096-4096 [OPEN ACCESS]
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IJspeert, H; van Schouwenburg, PA; Pico-Knijnenburg, I; Loeffen, J; Brugieres, L; Driessen, GJ; Blattmann, C; Suerink, M; Januszkiewicz-Lewandowska, D; Azizi, AA; Seidel, MG; Jacobs, H; van der Burg, M Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
Front Immunol. 2019; 10: 1913-1913. [OPEN ACCESS]
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Kispal, ZF; Vajda, P; Kardos, D; Klymiuk, I; Moissl-Eichinger, C; Castellani, C; Singer, G; Till, H The local microbiome after pediatric bladder augmentation: intestinal segments and the native urinary bladder host similar mucosal microbiota.
J Pediatr Urol. 2019; 15(1):30.e1-30.30
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Pichler, R; Compérat, E; Klatte, T; Pichler, M; Loidl, W; Lusuardi, L; Schmidinger, M Renal Cell Carcinoma with Sarcomatoid Features: Finally New Therapeutic Hope?
Cancers (Basel). 2019; 11(3): 422 [OPEN ACCESS]
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Prochazka, KT; Pregartner, G; Rücker, FG; Heitzer, E; Pabst, G; Wölfler, A; Zebisch, A; Berghold, A; Döhner, K; Sill, H Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.
Haematologica. 2019; 104(3):516-523 [OPEN ACCESS]
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Seeboeck, R; Sarne, V; Haybaeck, J Current Coverage of the mTOR Pathway by Next-Generation Sequencing Oncology Panels.
Int J Mol Sci. 2019; 20(3): [OPEN ACCESS]
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Spasic, S; Brcic, I; Freire, R; Garcia-Buitrago, MT; Rosenberg, AE Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case.
Int J Surg Pathol. 2019; 27(4): 423-426.
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Till, H; Kashofer, K; Laje, P; ElHaddad, A; Warncke, G; Gorkiewicz, G; Singer, G Microbial Evidence in Congenital Pulmonary Airway Malformations of Young Asymptomatic Infants.
J Laparoendosc Adv Surg Tech A. 2019;
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Tripolszki, K; Gampawar, P; Schmidt, H; Nagy, ZF; Nagy, D; Klivényi, P; Engelhardt, JI; Széll, M Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Front Genet. 2019; 10: 732-732. [OPEN ACCESS]
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2018

Crowther, LM; Poms, M; Plecko, B Multiomics tools for the diagnosis and treatment of rare neurological disease.
J INHERIT METAB DIS. 2018; 41(3): 425-434. [OPEN ACCESS]
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Griewank, KG; Wiesner, T; Murali, R; Pischler, C; Müller, H; Koelsche, C; Möller, I; Franklin, C; Cosgarea, I; Sucker, A; Schadendorf, D; Schaller, J; Horn, S; Brenn, T; Mentzel, T Atypical fibroxanthoma and pleomorphic dermal sarcoma harbor frequent NOTCH1/2 and FAT1 mutations and similar DNA copy number alteration profiles.
Mod Pathol. 2018; 31(3): 418-428. [OPEN ACCESS]
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Moser, G; Drewlo, S; Huppertz, B; Armant, DR Trophoblast retrieval and isolation from the cervix: origins of cervical trophoblasts and their potential value for risk assessment of ongoing pregnancies.
Hum Reprod Update. 2018; 24(4):484-496 [OPEN ACCESS]
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Singer, G; Kashofer, K; Castellani, C; Till, H Hirschsprung's Associated Enterocolitis (HAEC) Personalized Treatment with Probiotics Based on Gene Sequencing Analysis of the Fecal Microbiome.
Case Rep Pediatr. 2018; 2018:3292309-3292309 [OPEN ACCESS]
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Weerakkody, R; Ross, D; Parry, DA; Ziganshin, B; Vandrovcova, J; Gampawar, P; Abdullah, A; Biggs, J; Dumfarth, J; Ibrahim, Y; Yale Aortic Institute Data and Repository Team; Bicknell, C; Field, M; Elefteriades, J; Cheshire, N; Aitman, TJ Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Genet Med. 2018; 20(11): 1414-1422. [OPEN ACCESS]
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Zhong, Q; Wagner, U; Kurt, H; Molinari, F; Cathomas, G; Komminoth, P; Barman-Aksözen, J; Schneider-Yin, X; Rey, JP; Vassella, E; Rogel, U; Diebold, J; McKee, T; Jochum, W; Kashofer, K; Hofman, P; Zischka, M; Moch, H; Rechsteiner, M; Wild, PJ Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.
Pathol Res Pract. 2018; 214(7):957-963
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2017

Castellani, C; Singer, G; Kaiser, M; Kaiser, T; Huang, J; Sperl, D; Kashofer, K; Fauler, G; Guertl-Lackner, B; Höfler, G; Till, H Neuroblastoma causes alterations of the intestinal microbiome, gut hormones, inflammatory cytokines, and bile acid composition.
Pediatr Blood Cancer. 2017; 64(8):
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El-Heliebi, A; Kashofer, K; Fuchs, J; Jahn, SW; Viertler, C; Matak, A; Sedlmayr, P; Hoefler, G Visualization of tumor heterogeneity by in situ padlock probe technology in colorectal cancer.
Histochem Cell Biol. 2017; 148(2):105-115 [OPEN ACCESS]
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Evilä, A; Palmio, J; Vihola, A; Savarese, M; Tasca, G; Penttilä, S; Lehtinen, S; Jonson, PH; De Bleecker, J; Rainer, P; Auer-Grumbach, M; Pouget, J; Salort-Campana, E; Vilchez, JJ; Muelas, N; Olive, M; Hackman, P; Udd, B Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Mol Neurobiol. 2017; 54(9):7212-7223 [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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Halwachs, B; Madhusudhan, N; Krause, R; Nilsson, RH; Moissl-Eichinger, C; Högenauer, C; Thallinger, GG; Gorkiewicz, G Critical Issues in Mycobiota Analysis.
Front Microbiol. 2017; 8(3):180-180 [OPEN ACCESS]
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Kashofer, K; Winter, E; Halbwedl, I; Thueringer, A; Kreiner, M; Sauer, S; Regauer, S HPV-negative penile squamous cell carcinoma: disruptive mutations in the TP53 gene are common.
Mod Pathol. 2017; 30(7):1013-1020 [OPEN ACCESS]
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Möller, I; Murali, R; Müller, H; Wiesner, T; Jackett, LA; Scholz, SL; Cosgarea, I; van de Nes, JA; Sucker, A; Hillen, U; Schilling, B; Paschen, A; Kutzner, H; Rütten, A; Böckers, M; Scolyer, RA; Schadendorf, D; Griewank, KG Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi.
Mod Pathol. 2017; 30(3):350-356 [OPEN ACCESS]
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Nieser, M; Henopp, T; Brix, J; Stoß, L; Sitek, B; Naboulsi, W; Anlauf, M; Schlitter, AM; Klöppel, G; Gress, T; Moll, R; Bartsch, DK; Heverhagen, AE; Knoefel, WT; Kaemmerer, D; Haybaeck, J; Fend, F; Sperveslage, J; Sipos, B Loss of Chromosome 18 in Neuroendocrine Tumors of the Small Intestine: The Enigma Remains.
Neuroendocrinology. 2017; 104(3):302-312
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Putaala, J; Martinez-Majander, N; Saeed, S; Yesilot, N; Jäkälä, P; Nerg, O; Tsivgoulis, G; Numminen, H; Gordin, D; von Sarnowski, B; Waje-Andreassen, U; Ylikotila, P; Roine, RO; Zedde, M; Huhtakangas, J; Fonseca, C; Redfors, P; de Leeuw, FE; Pezzini, A; Kõrv, J; Schneider, S; Tanislav, C; Enzinger, C; Jatuzis, D; Siegerink, B; Martínez-Sánchez, P; Grau, AJ; Palm, F; Groop, PH; Lanthier, S; Ten Cate, H; Pussinen, P; Paju, S; Sinisalo, J; Lehto, M; Lindgren, A; Ferro, J; Kittner, S; Fazekas, F; Gerdts, E; Tatlisumak, T Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Triggers, Causes, and Outcome (SECRETO): Rationale and design.
Eur Stroke J. 2017; 2(2): 116-125. [OPEN ACCESS]
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Richtig, G; Hoeller, C; Kashofer, K; Aigelsreiter, A; Heinemann, A; Kwong, LN; Pichler, M; Richtig, E Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
Br J Dermatol. 2017; 177(4):936-944
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Stelzl, E; Haas, B; Bauer, B; Zhang, S; Fiss, EH; Hillman, G; Hamilton, AT; Mehta, R; Heil, ML; Marins, EG; Santner, BI; Kessler, HH First identification of a recombinant form of hepatitis C virus in Austrian patients by full-genome next generation sequencing.
PLoS One. 2017; 12(7):e0181273-e0181273 [OPEN ACCESS]
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Szurian, K; Kashofer, K; Liegl-Atzwanger, B Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors.
Pathobiology. 2017; 84(6):323-338 [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

Endris, V; Stenzinger, A; Pfarr, N; Penzel, R; Möbs, M; Lenze, D; Darb-Esfahani, S; Hummel, M; Sabine-Merkelbach-Bruse, M; Jung, A; Lehmann, U; Kreipe, H; Kirchner, T; Büttner, R; Jochum, W; Höfler, G; Dietel, M; Weichert, W; Schirmacher, P NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Virchows Arch. 2016; 468(6):697-705
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Jahn, SW; Kashofer, K; Thüringer, A; Abete, L; Winter, E; Eidenhammer, S; Viertler, C; Tavassoli, F; Moinfar, F Mutation Profiling of Usual Ductal Hyperplasia of the Breast Reveals Activating Mutations Predominantly at Different Levels of the PI3K/AKT/mTOR Pathway.
Am J Pathol. 2016; 186(1):15-23 [OPEN ACCESS]
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Lal, D; Reinthaler, EM; Dejanovic, B; May, P; Thiele, H; Lehesjoki, AE; Schwarz, G; Riesch, E; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Steinböck, H; Gruber-Sedlmayr, U; Neophytou, B; Zara, F; Hahn, A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley, P; Becker, F; Weber, YG; Cilio, MR; Kunz, WS; Krause, R; Zimprich, F; Lemke, JR; Nürnberg, P; Sander, T; Lerche, H; Neubauer, BA Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One. 2016; 11(3):e0150426-e0150426 [OPEN ACCESS]
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Lindheim, L; Bashir, M; Münzker, J; Trummer, C; Zachhuber, V; Pieber, TR; Gorkiewicz, G; Obermayer-Pietsch, B The Salivary Microbiome in Polycystic Ovary Syndrome (PCOS) and Its Association with Disease-Related Parameters: A Pilot Study.
Front Microbiol. 2016; 7(4):1270-1270 [OPEN ACCESS]
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Mora, M; Perras, A; Alekhova, TA; Wink, L; Krause, R; Aleksandrova, A; Novozhilova, T; Moissl-Eichinger, C Resilient microorganisms in dust samples of the International Space Station-survival of the adaptation specialists.
Microbiome. 2016; 4(1):65-65 [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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Schneider, D; Riegman, PH; Cronin, M; Negrouk, A; Moch, H; Balling, R; Penault-Llorca, F; Zatloukal, K; Horgan, D Accelerating the Development and Validation of New Value-Based Diagnostics by Leveraging Biobanks.
Public Health Genomics. 2016; 19(3):160-169 [OPEN ACCESS]
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Weerakkody, RA; Vandrovcova, J; Kanonidou, C; Mueller, M; Gampawar, P; Ibrahim, Y; Norsworthy, P; Biggs, J; Abdullah, A; Ross, D; Black, HA; Ferguson, D; Cheshire, NJ; Kazkaz, H; Grahame, R; Ghali, N; Vandersteen, A; Pope, FM; Aitman, TJ Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med. 2016; 18(11):1119-1127
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2015

Fischer, C; Scheipl, S; Zopf, A; Niklas, N; Deutsch, A; Jorgensen, M; Lohberger, B; Froehlich, EV; Leithner, A; Gabriel, C; Liegl-Atzwanger, B; Rinner, B Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing.
J Cancer. 2015; 6(10):984-989 [OPEN ACCESS]
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Murali, R; Chandramohan, R; Möller, I; Scholz, SL; Berger, M; Huberman, K; Viale, A; Pirun, M; Socci, ND; Bouvier, N; Bauer, S; Artl, M; Schilling, B; Schimming, T; Sucker, A; Schwindenhammer, B; Grabellus, F; Speicher, MR; Schaller, J; Hillen, U; Schadendorf, D; Mentzel, T; Cheng, DT; Wiesner, T; Griewank, KG Targeted massively parallel sequencing of angiosarcomas reveals frequent activation of the mitogen activated protein kinase pathway.
Oncotarget. 2015; 6(34):36041-36052 [OPEN ACCESS]
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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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Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289. [OPEN ACCESS]
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