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Publikationen

Suchbegriffe: DNA MUTATIONAL ANALYSIS - , . Treffer: 138

2019

Arash-Kaps, L; Komlosi, K; Seegräber, M; Diederich, S; Paschke, E; Amraoui, Y; Beblo, S; Dieckmann, A; Smitka, M; Hennermann, JB The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr. 2019; 215(12):152-157 Doi: 10.1016/j.jpeds.2019.08.016
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2018

Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863 Doi: 10.1097/MOP.0000000000000680
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Socha, P; Janczyk, W; Dhawan, A; Baumann, U; D'Antiga, L; Tanner, S; Iorio, R; Vajro, P; Houwen, R; Fischler, B; Dezsofi, A; Hadzic, N; Hierro, L; Jahnel, J; McLin, V; Nobili, V; Smets, F; Verkade, HJ; Debray, D Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.
J Pediatr Gastroenterol Nutr. 2018; 66(2):334-344 Doi: 10.1097/MPG.0000000000001787
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2017

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 Doi: 10.1007/s00418-017-1557-5 [OPEN ACCESS]
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Hamilton, EMC; Bertini, E; Kalaydjieva, L; Morar, B; Dojčáková, D; Liu, J; Vanderver, A; Curiel, J; Persoon, CM; Diodato, D; Pinelli, L; van der Meij, NL; Plecko, B; Blaser, S; Wolf, NI; Waisfisz, Q; Abbink, TEM; van der Knaap, MS; Recessive H-ABC Research Group UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Neurology. 2017; 89(17):1821-1828 Doi: 10.1212/WNL.0000000000004578 [OPEN ACCESS]
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Heitzer, E; Sunitsch, S; Gilg, MM; Lohberger, B; Rinner, B; Kashofer, K; Stündl, N; Ulz, P; Szkandera, J; Leithner, A; Liegl-Atzwanger, B Expanded molecular profiling of myxofibrosarcoma reveals potentially actionable targets.
Mod Pathol. 2017; 30(12):1698-1709 Doi: 10.1038/modpathol.2017.94 [OPEN ACCESS]
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Lohberger, B; Stuendl, N; Leithner, A; Rinner, B; Sauer, S; Kashofer, K; Liegl-Atzwanger, B Establishment of a novel cellular model for myxofibrosarcoma heterogeneity.
Sci Rep. 2017; 7(9):44700-44700 Doi: 10.1038/srep44700 [OPEN ACCESS]
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März, W; Grammer, TB; Delgado, G; Kleber, ME [Congenital disorders of lipoprotein metabolism].
Herz. 2017; 42(5):449-458 Doi: 10.1007/s00059-017-4578-x [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 Doi: 10.1038/modpathol.2016.201 [OPEN ACCESS]
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Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet. 2017; 54(12): 809-814. Doi: 10.1136/jmedgenet-2017-104521 (- Case Report)
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Popper, H [Interstitial processes of the lungs in childhood].
Pathologe. 2017; 38(4):260-271 Doi: 10.1007/s00292-017-0280-2 [OPEN ACCESS]
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Qiu, YL; Gong, JY; Feng, JY; Wang, RX; Han, J; Liu, T; Lu, Y; Li, LT; Zhang, MH; Sheps, JA; Wang, NL; Yan, YY; Li, JQ; Chen, L; Borchers, CH; Sipos, B; Knisely, AS; Ling, V; Xing, QH; Wang, JS Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Hepatology. 2017; 65(5):1655-1669 Doi: 10.1002/hep.29020 [OPEN ACCESS]
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Saraggi, D; Salmaso, R; Valentini, E; Munari, G; Vindigni, V; Rugge, M; Fassan, M; Cerroni, L Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver.
Pathol Res Pract. 2017; 213(7):860-862 Doi: 10.1016/j.prp.2017.03.012 (- Case Report)
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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 Doi: 10.1159/000478662 [OPEN ACCESS]
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Woischke, C; Schaaf, CW; Yang, HM; Vieth, M; Veits, L; Geddert, H; Märkl, B; Stömmer, P; Schaeffer, DF; Frölich, M; Blum, H; Vosberg, S; Greif, PA; Jung, A; Kirchner, T; Horst, D In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components.
Mod Pathol. 2017; 30(1): 95-103. Doi: 10.1038/modpathol.2016.150
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2016

Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623 Doi: 10.1016/j.ajhg.2016.07.008 [OPEN ACCESS]
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Beheshtian, M; Izadi, N; Kriegshauser, G; Kahrizi, K; Mehr, EP; Rostami, M; Hosseini, M; Azad, M; Montajabiniat, M; Kariminejad, A; Nemeth, S; Oberkanins, C; Najmabadi, H Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
J Genet. 2016; 95(3): 667-674. Doi: 10.1007/s12041-016-0682-6 [OPEN ACCESS]
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Grenkowitz, T; Kassner, U; Wühle-Demuth, M; Salewsky, B; Rosada, A; Zemojtel, T; Hopfenmüller, W; Isermann, B; Borucki, K; Heigl, F; Laufs, U; Wagner, S; Kleber, ME; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis. 2016; 253(19-20):88-93 Doi: 10.1016/j.atherosclerosis.2016.08.037
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Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368 Doi: 10.1111/ahg.12176 [OPEN ACCESS]
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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. Doi: 10.1186/s12881-016-0271-9 [OPEN ACCESS]
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Mlecnik, B; Bindea, G; Angell, HK; Maby, P; Angelova, M; Tougeron, D; Church, SE; Lafontaine, L; Fischer, M; Fredriksen, T; Sasso, M; Bilocq, AM; Kirilovsky, A; Obenauf, AC; Hamieh, M; Berger, A; Bruneval, P; Tuech, JJ; Sabourin, JC; Le Pessot, F; Mauillon, J; Rafii, A; Laurent-Puig, P; Speicher, MR; Trajanoski, Z; Michel, P; Sesboüe, R; Frebourg, T; Pagès, F; Valge-Archer, V; Latouche, JB; Galon, J Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Immunity. 2016; 44(3):698-711 Doi: 10.1016/j.immuni.2016.02.025 [OPEN ACCESS]
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Seidel, MG; Boztug, K; Haas, OA Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
J Clin Immunol. 2016; 36(1):6-7 Doi: 10.1007/s10875-015-0218-5 (- Case Report) [OPEN ACCESS]
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2015

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 Doi: 10.1093/hmg/ddv286 (- Case Report) [OPEN ACCESS]
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Neumann, M; Vosberg, S; Schlee, C; Heesch, S; Schwartz, S; Gökbuget, N; Hoelzer, D; Graf, A; Krebs, S; Bartram, I; Blum, H; Brüggemann, M; Hecht, J; Bohlander, SK; Greif, PA; Baldus, CD Mutational spectrum of adult T-ALL.
Oncotarget. 2015; 6(5): 2754-2766. Doi: 10.18632/oncotarget.2218 [OPEN ACCESS]
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Schulz, E; Kashofer, K; Heitzer, E; Mhatre, KN; Speicher, MR; Hoefler, G; Sill, H Preexisting TP53 mutation in therapy-related acute myeloid leukemia.
Ann Hematol. 2015; 94(3):527-529 Doi: 10.1007/s00277-014-2191-0 (- Case Report) [OPEN ACCESS]
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Stättermayer, AF; Traussnigg, S; Dienes, HP; Aigner, E; Stauber, R; Lackner, K; Hofer, H; Stift, J; Wrba, F; Stadlmayr, A; Datz, C; Strasser, M; Maieron, A; Trauner, M; Ferenci, P Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.
J Hepatol. 2015; 63(1):156-163 Doi: 10.1016/j.jhep.2015.01.034
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Strickland, AV; Schabhüttl, M; Offenbacher, H; Synofzik, M; Hauser, NS; Brunner-Krainz, M; Gruber-Sedlmayr, U; Moore, SA; Windhager, R; Bender, B; Harms, M; Klebe, S; Young, P; Kennerson, M; Garcia, AS; Gonzalez, MA; Züchner, S; Schule, R; Shy, ME; Auer-Grumbach, M Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol. 2015; 262(9):2124-2134 Doi: 10.1007/s00415-015-7727-2 [OPEN ACCESS]
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Wolfson, Y; Applegate, CD; Strauss, RW; Han, IC; Scholl, HP CRB1-Related Maculopathy With Cystoid Macular Edema.
JAMA Ophthalmol. 2015; 133(11):1357-1360 Doi: 10.1001/jamaophthalmol.2015.2814 (- Case Report)
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2014

Coyle, D; Friedmacher, F; Puri, P The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
Pediatr Surg Int. 2014; 30(8):751-756 Doi: 10.1007/s00383-014-3538-2
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Hammer, HF An update on pancreatic pathophysiology (do we have to rewrite pancreatic pathophysiology?).
Wien Med Wochenschr. 2014; 164(3-4):57-62 Doi: 10.1007/s10354-013-0260-y
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Heidenreich, B; Nagore, E; Rachakonda, PS; Garcia-Casado, Z; Requena, C; Traves, V; Becker, J; Soufir, N; Hemminki, K; Kumar, R Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.
Nat Commun. 2014; 5(5):3401-3401 Doi: 10.1038/ncomms4401 [OPEN ACCESS]
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Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530 Doi: 10.1007/s12041-014-0394-8 [OPEN ACCESS]
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Pichler, M; Winter, E; Ress, AL; Bauernhofer, T; Gerger, A; Kiesslich, T; Lax, S; Samonigg, H; Hoefler, G miR-181a is associated with poor clinical outcome in patients with colorectal cancer treated with EGFR inhibitor.
J Clin Pathol. 2014; 67(3):198-203 Doi: 10.1136/jclinpath-2013-201904
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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 Doi: 10.1212/WNL.0000000000000344 [OPEN ACCESS]
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Sedej, S; Schmidt, A; Denegri, M; Walther, S; Matovina, M; Arnstein, G; Gutschi, EM; Windhager, I; Ljubojević, S; Negri, S; Heinzel, FR; Bisping, E; Vos, MA; Napolitano, C; Priori, SG; Kockskämper, J; Pieske, B Subclinical abnormalities in sarcoplasmic reticulum Ca(2+) release promote eccentric myocardial remodeling and pump failure death in response to pressure overload.
J Am Coll Cardiol. 2014; 63(15):1569-1579 Doi: 10.1016/j.jacc.2013.11.010 [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 Doi: 10.1038/ncomms4116 [OPEN ACCESS]
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2013

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 Doi: 10.1016/j.ajhg.2013.10.023 (- Case Report) [OPEN ACCESS]
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Gordon, CT; Vuillot, A; Marlin, S; Gerkes, E; Henderson, A; AlKindy, A; Holder-Espinasse, M; Park, SS; Omarjee, A; Sanchis-Borja, M; Bdira, EB; Oufadem, M; Sikkema-Raddatz, B; Stewart, A; Palmer, R; McGowan, R; Petit, F; Delobel, B; Speicher, MR; Aurora, P; Kilner, D; Pellerin, P; Simon, M; Bonnefont, JP; Tobias, ES; García-Miñaúr, S; Bitner-Glindzicz, M; Lindholm, P; Meijer, BA; Abadie, V; Denoyelle, F; Vazquez, MP; Rotky-Fast, C; Couloigner, V; Pierrot, S; Manach, Y; Breton, S; Hendriks, YM; Munnich, A; Jakobsen, L; Kroisel, P; Lin, A; Kaban, LB; Basel-Vanagaite, L; Wilson, L; Cunningham, ML; Lyonnet, S; Amiel, J Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet. 2013; 50(3):174-186 Doi: 10.1136/jmedgenet-2012-101331
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Kodaganur, SG; Tontanahal, SJ; Sarda, A; Shah, MH; Bhat, V; Kumar, A Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Clin Dysmorphol. 2013; 22(2): 54-58. Doi: 10.1097/MCD.0b013e32835f9ac0
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Muhn, F; Klopocki, E; Graul-Neumann, L; Uhrig, S; Colley, A; Castori, M; Lankes, E; Henn, W; Gruber-Sedlmayr, U; Seifert, W; Horn, D Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Clin Genet. 2013; 84(6):531-538 Doi: 10.1111/cge.12106
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Murali, R; Wiesner, T; Scolyer, RA Tumours associated with BAP1 mutations.
Pathology. 2013; 45(2):116-126 Doi: 10.1097/PAT.0b013e32835d0efb
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Opatz, S; Polzer, H; Herold, T; Konstandin, NP; Ksienzyk, B; Zellmeier, E; Vosberg, S; Graf, A; Krebs, S; Blum, H; Hopfner, KP; Kakadia, PM; Schneider, S; Dufour, A; Braess, J; Sauerland, MC; Berdel, WE; Büchner, T; Woermann, BJ; Hiddemann, W; Spiekermann, K; Bohlander, SK; Greif, PA Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.
Blood. 2013; 122(10): 1761-1769. Doi: 10.1182/blood-2013-01-476473
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Setaffy, L; Högenauer, C; Lemmerer, M; Langner, C Large serrated polyp with KRAS mutation in inflammatory bowel disease: a "nondysplastic dysplasia-associated lesion or mass (DALM)"?
Endoscopy. 2013; 45 Suppl 2 UCTN(19):E235-E236 Doi: 10.1055/s-0033-1344321 (- Case Report) [OPEN ACCESS]
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2012

Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523 Doi: 10.1007/s00415-011-6213-8 [OPEN ACCESS]
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Gianakopoulos, PJ; Zhang, Y; Pencea, N; Orlic-Milacic, M; Mittal, K; Windpassinger, C; White, SJ; Kroisel, PM; Chow, EW; Saunders, CJ; Minassian, BA; Vincent, JB Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(2): 210-216. Doi: 10.1002/ajmg.b.32015
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Hafner, C; Houben, R; Baeurle, A; Ritter, C; Schrama, D; Landthaler, M; Becker, JC Activation of the PI3K/AKT pathway in Merkel cell carcinoma.
PLoS One. 2012; 7(2):e31255-e31255 Doi: 10.1371/journal.pone.0031255 [OPEN ACCESS]
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Kraus, JP; Spector, E; Venezia, S; Estes, P; Chiang, PW; Creadon-Swindell, G; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, OA; Baumgartner, MR; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, JB; Steinfeld, R; Beblo, S; Koch, HG; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, KO; Grünert, SC; Sass, JO Mutation analysis in 54 propionic acidemia patients.
J INHERIT METAB DIS. 2012; 35(1): 51-63. Doi: 10.1007/s10545-011-9399-0
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Marschik, PB; Pini, G; Bartl-Pokorny, KD; Duckworth, M; Gugatschka, M; Vollmann, R; Zappella, M; Einspieler, C Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.
Dev Med Child Neurol. 2012; 54(5):451-456 Doi: 10.1111/j.1469-8749.2012.04123.x [OPEN ACCESS]
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Schulz, E; Valentin, A; Ulz, P; Beham-Schmid, C; Lind, K; Rupp, V; Lackner, H; Wölfler, A; Zebisch, A; Olipitz, W; Geigl, J; Berghold, A; Speicher, MR; Sill, H Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet. 2012; 49(7):422-428 Doi: 10.1136/jmedgenet-2011-100674
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Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389 Doi: 10.1055/s-0032-1323836 (- Case Report)
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