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

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Publikationen

Suchbegriffe: MUTATION - , . Treffer: 258

2017

Borlee, GI; Plumley, BA; Martin, KH; Somprasong, N; Mangalea, MR; Islam, MN; Burtnick, MN; Brett, PJ; Steinmetz, I; AuCoin, DP; Belisle, JT; Crick, DC; Schweizer, HP; Borlee, BR Genome-scale analysis of the genes that contribute to Burkholderia pseudomallei biofilm formation identifies a crucial exopolysaccharide biosynthesis gene cluster.
PLoS Negl Trop Dis. 2017; 11(6):e0005689-e0005689 [OPEN ACCESS]
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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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Tanna, P; Strauss, RW; Fujinami, K; Michaelides, M Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
Br J Ophthalmol. 2017; 101(1): 25-30. [OPEN ACCESS]
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2016

Arora, R; Khan, K; Kasilian, ML; Strauss, RW; Holder, GE; Robson, AG; Thompson, DA; Moore, AT; Michaelides, M Unilateral BEST1-Associated Retinopathy.
Am J Ophthalmol. 2016; 169: 24-32. (- Case Report) [OPEN ACCESS]
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Bartuzi, P; Billadeau, DD; Favier, R; Rong, S; Dekker, D; Fedoseienko, A; Fieten, H; Wijers, M; Levels, JH; Huijkman, N; Kloosterhuis, N; van der Molen, H; Brufau, G; Groen, AK; Elliott, AM; Kuivenhoven, JA; Plecko, B; Grangl, G; McGaughran, J; Horton, JD; Burstein, E; Hofker, MH; van de Sluis, B CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Nat Commun. 2016; 7(3):10961-10961 [OPEN ACCESS]
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Derler, I; Jardin, I; Stathopulos, PB; Muik, M; Fahrner, M; Zayats, V; Pandey, SK; Poteser, M; Lackner, B; Absolonova, M; Schindl, R; Groschner, K; Ettrich, R; Ikura, M; Romanin, C Cholesterol modulates Orai1 channel function.
Sci Signal. 2016; 9(412):ra10-ra10
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Gomez-Ospina, N; Potter, CJ; Xiao, R; Manickam, K; Kim, MS; Kim, KH; Shneider, BL; Picarsic, JL; Jacobson, TA; Zhang, J; He, W; Liu, P; Knisely, AS; Finegold, MJ; Muzny, DM; Boerwinkle, E; Lupski, JR; Plon, SE; Gibbs, RA; Eng, CM; Yang, Y; Washington, GC; Porteus, MH; Berquist, WE; Kambham, N; Singh, RJ; Xia, F; Enns, GM; Moore, DD Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
NAT COMMUN. 2016; 7(2): 10713-10713. [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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Tang, Y; Fickert, P; Trauner, M; Marcus, N; Blomenkamp, K; Teckman, J Autophagy induced by exogenous bile acids is therapeutic in a model of α-1-AT deficiency liver disease.
Am J Physiol Gastrointest Liver Physiol. 2016; 311(1):G156-G165
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2015

Gersch, M; Famulla, K; Dahmen, M; Göbl, C; Malik, I; Richter, K; Korotkov, VS; Sass, P; Rübsamen-Schaeff, H; Madl, T; Brötz-Oesterhelt, H; Sieber, SA AAA+ chaperones and acyldepsipeptides activate the ClpP protease via conformational control.
Nat Commun. 2015; 6(2):6320-6320
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Kandioler, D; Mittlböck, M; Kappel, S; Puhalla, H; Herbst, F; Langner, C; Wolf, B; Tschmelitsch, J; Schippinger, W; Steger, G; Hofbauer, F; Samonigg, H; Gnant, M; Teleky, B; Kührer, I; p53 Research Group and the Austrian Breast and Colorectal Study Group (ABCSG) TP53 Mutational Status and Prediction of Benefit from Adjuvant 5-Fluorouracil in Stage III Colon Cancer Patients.
EBioMedicine. 2015; 2(8):825-830 [OPEN ACCESS]
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Meyer, NH; Mayerhofer, H; Tripsianes, K; Blindow, S; Barths, D; Mewes, A; Weimar, T; Köhli, T; Bade, S; Madl, T; Frey, A; Haas, H; Mueller-Dieckmann, J; Sattler, M; Schramm, G A Crystallin Fold in the Interleukin-4-inducing Principle of Schistosoma mansoni Eggs (IPSE/α-1) Mediates IgE Binding for Antigen-independent Basophil Activation.
J Biol Chem. 2015; 290(36): 22111-22126. [OPEN ACCESS]
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Paolini, A; Baldassarre, A; Del Gaudio, I; Masotti, A Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015; 16(8):19631-19644 [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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Shain, AH; Garrido, M; Botton, T; Talevich, E; Yeh, I; Sanborn, JZ; Chung, J; Wang, NJ; Kakavand, H; Mann, GJ; Thompson, JF; Wiesner, T; Roy, R; Olshen, AB; Gagnon, A; Gray, JW; Huh, N; Hur, JS; Busam, KJ; Scolyer, RA; Cho, RJ; Murali, R; Bastian, BC Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
Nat Genet. 2015; 47(10): 1194-1199. [OPEN ACCESS]
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Wiesner, T; Kiuru, M; Scott, SN; Arcila, M; Halpern, AC; Hollmann, T; Berger, MF; Busam, KJ NF1 Mutations Are Common in Desmoplastic Melanoma.
Am J Surg Pathol. 2015; 39(10): 1357-1362. [OPEN ACCESS]
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2014

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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Friedrich, K; Wannhoff, A; Kattner, S; Brune, M; Hov, JR; Weiss, KH; Antoni, C; Dollinger, M; Neumann-Haefelin, C; Seufferlein, T; Schemmer, P; Schirmacher, P; Stremmel, W; Gotthardt, DN PNPLA3 in end-stage liver disease: alcohol consumption, hepatocellular carcinoma development, and transplantation-free survival.
J Gastroenterol Hepatol. 2014; 29(7):1477-1484
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Heidary, M; Auer, M; Ulz, P; Heitzer, E; Petru, E; Gasch, C; Riethdorf, S; Mauermann, O; Lafer, I; Pristauz, G; Lax, S; Pantel, K; Geigl, JB; Speicher, MR The dynamic range of circulating tumor DNA in metastatic breast cancer.
Breast Cancer Res. 2014; 16(4):421-421 [OPEN ACCESS]
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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
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Hopf, V; Göhler, A; Eske-Pogodda, K; Bast, A; Steinmetz, I; Breitbach, K BPSS1504, a cluster 1 type VI secretion gene, is involved in intracellular survival and virulence of Burkholderia pseudomallei.
Infect Immun. 2014; 82(5): 2006-2015. [OPEN ACCESS]
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Kastner, R; Zopf, A; Preuner, S; Pröll, J; Niklas, N; Foskett, P; Valent, P; Lion, T; Gabriel, C Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Eur J Cancer. 2014; 50(4): 793-800. [OPEN ACCESS]
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Ma, X; Rousseau, V; Sun, H; Lantuejoul, S; Filipits, M; Pirker, R; Popper, H; Mendiboure, J; Vataire, AL; Le Chevalier, T; Soria, JC; Brambilla, E; Dunant, A; Hainaut, P; IALT-Bio working group Significance of TP53 mutations as predictive markers of adjuvant cisplatin-based chemotherapy in completely resected non-small-cell lung cancer.
Mol Oncol. 2014; 8(3):555-564 [OPEN ACCESS]
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Mohan, S; Heitzer, E; Ulz, P; Lafer, I; Lax, S; Auer, M; Pichler, M; Gerger, A; Eisner, F; Hoefler, G; Bauernhofer, T; Geigl, JB; Speicher, MR Changes in colorectal carcinoma genomes under anti-EGFR therapy identified by whole-genome plasma DNA sequencing.
PLoS Genet. 2014; 10(3):e1004271-e1004271 [OPEN ACCESS]
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Niklas, N; Pröll, J; Weinberger, J; Zopf, A; Wiesinger, K; Krismer, K; Bettelheim, P; Gabriel, C Qualifying high-throughput immune repertoire sequencing.
Cell Immunol. 2014; 288(1-2): 31-38.
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Pagava, K; Rauscher, B; Korinteli, IA; Shonvadze, D; Kriegshauser, G; Oberkanins, Ch Familial Mediterranean fever in Georgia.
Georgian Med News. 2014; 95(230): 79-82.
PubMed

 

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
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Polin, H; Gaszner, W; Suessner, S; Danzer, M; Gabriel, C Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Transfusion. 2014; 54(8): 2130-2131.
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Saroufim, M; Novy, M; Taraif, S; Habib, RH; Loya, A; Rauscher, B; Kriegshäuser, G; Oberkanins, C; Khalifeh, I BRAF mutational epidemiology in dysplastic nevi: does different solar UV radiation exposure matter?
J Eur Acad Dermatol Venereol. 2014; 28(5): 615-625.
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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 [OPEN ACCESS]
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Spiess, B; Postina, P; Reinwald, M; Cornely, OA; Hamprecht, A; Hoenigl, M; Lass-Flörl, C; Rath, PM; Steinmann, J; Miethke, T; Lauten, M; Will, S; Merker, N; Hofmann, WK; Buchheidt, D Incidence of Cyp51 A key mutations in Aspergillus fumigatus-a study on primary clinical samples of immunocompromised patients in the period of 1995-2013.
PLoS One. 2014; 9(7):e103113-e103113 [OPEN ACCESS]
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Stadelmeyer, E; Heitzer, E; Resel, M; Cerroni, L; Wolf, P; Dandachi, N The BRAF V600K mutation is more frequent than the BRAF V600E mutation in melanoma in situ of lentigo maligna type.
J Invest Dermatol. 2014; 134(2):548-550 [OPEN ACCESS]
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Yeh, I; Mully, TW; Wiesner, T; Vemula, SS; Mirza, SA; Sparatta, AJ; McCalmont, TH; Bastian, BC; LeBoit, PE Ambiguous melanocytic tumors with loss of 3p21.
Am J Surg Pathol. 2014; 38(8): 1088-1095. [OPEN ACCESS]
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2013

Auer-Grumbach, M; Bode, H; Pieber, TR; Schabhüttl, M; Fischer, D; Seidl, R; Graf, E; Wieland, T; Schuh, R; Vacariu, G; Grill, F; Timmerman, V; Strom, TM; Hornemann, T Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Eur J Med Genet. 2013; 56(5):266-269 (- Case Report) [OPEN ACCESS]
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Beck, BB; Baasner, A; Buescher, A; Habbig, S; Reintjes, N; Kemper, MJ; Sikora, P; Mache, C; Pohl, M; Stahl, M; Toenshoff, B; Pape, L; Fehrenbach, H; Jacob, DE; Grohe, B; Wolf, MT; Nürnberg, G; Yigit, G; Salido, EC; Hoppe, B Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Eur J Hum Genet. 2013; 21(2):162-172 [OPEN ACCESS]
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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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Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H; Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet. 2013; 45(1):83-87 [OPEN ACCESS]
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Derler, I; Schindl, R; Fritsch, R; Heftberger, P; Riedl, MC; Begg, M; House, D; Romanin, C The action of selective CRAC channel blockers is affected by the Orai pore geometry.
Cell Calcium. 2013; 53(2): 139-151. [OPEN ACCESS]
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Dijkstra, JR; Heideman, DA; Meijer, GA; Boers, JE; 't Hart, NA; Diebold, J; Hirschmann, A; Hoefler, G; Winter, G; Miltenberger-Miltenyi, G; Pereira, SV; Richman, SD; Quirke, P; Rouleau, EL; Guinebretiere, JM; Tejpar, S; Biesmans, B; van Krieken, JH KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance.
Virchows Arch. 2013; 462(1):39-46
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Eggermann, T; Spengler, S; Denecke, B; Zerres, K; Mache, CJ Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013; 79(1):78-80 (- Case Report)
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Fruhmann, J; Geigl, JB; Konstantiniuk, P; Cohnert, TU Paraganglioma of the Carotid Body: Treatment Strategy and SDH-gene Mutations.
Eur J Vasc Endovasc Surg. 2013; 45(5):431-436 [OPEN ACCESS]
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Gasch, C; Bauernhofer, T; Pichler, M; Langer-Freitag, S; Reeh, M; Seifert, AM; Mauermann, O; Izbicki, JR; Pantel, K; Riethdorf, S Heterogeneity of Epidermal Growth Factor Receptor Status and Mutations of KRAS/PIK3CA in Circulating Tumor Cells of Patients with Colorectal Cancer.
Clin Chem. 2013; 59(1):252-260 [OPEN ACCESS]
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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 (- 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
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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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Heitzer, E; Lax, S; Lafer, I; Müller, SM; Pristauz, G; Ulz, P; Jahn, S; Högenauer, C; Petru, E; Speicher, MR; Geigl, JB Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
BMC Med Genet. 2013; 14(1):129-129 (- Case Report) [OPEN ACCESS]
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Jänis, MT; Tarasov, K; Ta, HX; Suoniemi, M; Ekroos, K; Hurme, R; Lehtimäki, T; Päivä, H; Kleber, ME; März, W; Prat, A; Seidah, NG; Laaksonen, R Beyond LDL-C lowering: distinct molecular sphingolipids are good indicators of proprotein convertase subtilisin/kexin type 9 (PCSK9) deficiency.
Atherosclerosis. 2013; 228(2):380-385 [OPEN ACCESS]
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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.
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