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

Logo MUG-Forschungsportal

Publikationen

Suchbegriffe: MUTATION ANALYSIS., . Treffer: 7

2019

Majoor, BCJ; van de Sande, MAJ; Appelman-Dijkstra, NM; Leithner, A; Jutte, PC; Vélez, R; Perlaky, T; Staals, EL; Bovée, JVMG; Hamdy, NAT; Dijkstra, SPD Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study.
J Bone Joint Surg Am. 2019; 101(2): 160-168.
Web of Science PubMed FullText FullText_MUG

 

2017

Weyerer, V; Schneckenpointner, R; Filbeck, T; Burger, M; Hofstaedter, F; Wild, PJ; Fine, SW; Humphrey, PA; Dehner, LP; Amin, MB; Rüschoff, J; Boltze, C; Tannapfel, A; Zwarthoff, E; Lopez-Beltran, A; Montironi, R; Langner, C; Stoehr, R; Hartmann, A; Giedl, J Immunohistochemical and molecular characterizations in urothelial carcinoma of bladder in patients less than 45 years.
J Cancer. 2017; 8(3):323-331 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2014

Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2012

Krone, N; Reisch, N; Idkowiak, J; Dhir, V; Ivison, HE; Hughes, BA; Rose, IT; O'Neil, DM; Vijzelaar, R; Smith, MJ; MacDonald, F; Cole, TR; Adolphs, N; Barton, JS; Blair, EM; Braddock, SR; Collins, F; Cragun, DL; Dattani, MT; Day, R; Dougan, S; Feist, M; Gottschalk, ME; Gregory, JW; Haim, M; Harrison, R; Olney, AH; Hauffa, BP; Hindmarsh, PC; Hopkin, RJ; Jira, PE; Kempers, M; Kerstens, MN; Khalifa, MM; Köhler, B; Maiter, D; Nielsen, S; O'Riordan, SM; Roth, CL; Shane, KP; Silink, M; Stikkelbroeck, NM; Sweeney, E; Szarras-Czapnik, M; Waterson, JR; Williamson, L; Hartmann, MF; Taylor, NF; Wudy, SA; Malunowicz, EM; Shackleton, CH; Arlt, W Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab. 2012; 97(2):E257-E267 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2011

Namavar, Y; Barth, PG; Kasher, PR; van Ruissen, F; Brockmann, K; Bernert, G; Writzl, K; Ventura, K; Cheng, EY; Ferriero, DM; Basel-Vanagaite, L; Eggens, VR; Krägeloh-Mann, I; De Meirleir, L; King, M; Graham, JM; von Moers, A; Knoers, N; Sztriha, L; Korinthenberg, R; PCH Consortium; Dobyns, WB; Baas, F; Poll-The, BT Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain. 2011; 134(Pt 1): 143-156. [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2009

Ausch, C; Buxhofer-Ausch, V; Oberkanins, C; Holzer, B; Minai-Pour, M; Jahn, S; Dandachi, N; Zeillinger, R; Kriegshäuser, G Sensitive detection of KRAS mutations in archived formalin-fixed paraffin-embedded tissue using mutant-enriched PCR and reverse-hybridization.
J Mol Diagn. 2009; 11(6):508-513 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

2004

Hendriks, YM; Wagner, A; Morreau, H; Menko, F; Stormorken, A; Quehenberger, F; Sandkuijl, L; Møller, P; Genuardi, M; Van Houwelingen, H; Tops, C; Van Puijenbroek, M; Verkuijlen, P; Kenter, G; Van Mil, A; Meijers-Heijboer, H; Tan, GB; Breuning, MH; Fodde, R; Wijnen, JT; Bröcker-Vriends, AH; Vasen, H Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Gastroenterology. 2004; 127(1):17-25
Web of Science PubMed FullText FullText_MUG Google Scholar

 

© Med Uni Graz Impressum