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

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Publikationen

Suchbegriffe: GENETICS, . Treffer: 300

2020

Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; e1060-e1060. [OPEN ACCESS]
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Amare, AT; Schubert, KO; Hou, L; Clark, SR; Papiol, S; Cearns, M; Heilbronner, U; Degenhardt, F; Tekola-Ayele, F; Hsu, YH; Shekhtman, T; Adli, M; Akula, N; Akiyama, K; Ardau, R; Arias, B; Aubry, JM; Backlund, L; Bhattacharjee, AK; Bellivier, F; Benabarre, A; Bengesser, S; Biernacka, JM; Birner, A; Brichant-Petitjean, C; Cervantes, P; Chen, HC; Chillotti, C; Cichon, S; Cruceanu, C; Czerski, PM; Dalkner, N; Dayer, A; Del Zompo, M; DePaulo, JR; Étain, B; Jamain, S; Falkai, P; Forstner, AJ; Frisen, L; Frye, MA; Fullerton, JM; Gard, S; Garnham, JS; Goes, FS; Grigoroiu-Serbanescu, M; Grof, P; Hashimoto, R; Hauser, J; Herms, S; Hoffmann, P; Hofmann, A; Jiménez, E; Kahn, JP; Kassem, L; Kuo, PH; Kato, T; Kelsoe, JR; Kittel-Schneider, S; Kliwicki, S; König, B; Kusumi, I; Laje, G; Landén, M; Lavebratt, C; Leboyer, M; Leckband, SG; Tortorella, A; Manchia, M; Martinsson, L; McCarthy, MJ; McElroy, SL; Colom, F; Mitjans, M; Mondimore, FM; Monteleone, P; Nievergelt, CM; Nöthen, MM; Novák, T; O'Donovan, C; Ozaki, N; Ösby, U; Pfennig, A; Potash, JB; Reif, A; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Reininghaus, E; Rouleau, GA; Rybakowski, JK; Schalling, M; Schofield, PR; Schweizer, BW; Severino, G; Shilling, PD; Shimoda, K; Simhandl, C; Slaney, CM; Squassina, A; Stamm, T; Stopkova, P; Maj, M; Turecki, G; Vieta, E; Veeh, J; Witt, SH; Wright, A; Zandi, PP; Mitchell, PB; Bauer, M; Alda, M; Rietschel, M; McMahon, FJ; Schulze, TG; Baune, BT Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.
Mol Psychiatry. 2020; 11:
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Armstrong, NJ; Mather, KA; Sargurupremraj, M; Knol, MJ; Malik, R; Satizabal, CL; Yanek, LR; Wen, W; Gudnason, VG; Dueker, ND; Elliott, LT; Hofer, E; Bis, J; Jahanshad, N; Li, S; Logue, MA; Luciano, M; Scholz, M; Smith, AV; Trompet, S; Vojinovic, D; Xia, R; Alfaro-Almagro, F; Ames, D; Amin, N; Amouyel, P; Beiser, AS; Brodaty, H; Deary, IJ; Fennema-Notestine, C; Gampawar, PG; Gottesman, R; Griffanti, L; Jack, CR; Jenkinson, M; Jiang, J; Kral, BG; Kwok, JB; Lampe, L; C M Liewald, D; Maillard, P; Marchini, J; Bastin, ME; Mazoyer, B; Pirpamer, L; Rafael Romero, J; Roshchupkin, GV; Schofield, PR; Schroeter, ML; Stott, DJ; Thalamuthu, A; Trollor, J; Tzourio, C; van der Grond, J; Vernooij, MW; Witte, VA; Wright, MJ; Yang, Q; Morris, Z; Siggurdsson, S; Psaty, B; Villringer, A; Schmidt, H; Haberg, AK; van Duijn, CM; Jukema, JW; Dichgans, M; Sacco, RL; Wright, CB; Kremen, WS; Becker, LC; Thompson, PM; Mosley, TH; Wardlaw, JM; Ikram, MA; Adams, HHH; Seshadri, S; Sachdev, PS; Smith, SM; Launer, L; Longstreth, W; DeCarli, C; Schmidt, R; Fornage, M; Debette, S; Nyquist, PA Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.
Stroke. 2020; STROKEAHA119027544-STROKEAHA119027544. [OPEN ACCESS]
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Chan, AY; Leiding, JW; Liu, X; Logan, BR; Burroughs, LM; Allenspach, EJ; Skoda-Smith, S; Uzel, G; Notarangelo, LD; Slatter, M; Gennery, AR; Smith, AR; Pai, SY; Jordan, MB; Marsh, RA; Cowan, MJ; Dvorak, CC; Craddock, JA; Prockop, SE; Chandrakasan, S; Kapoor, N; Buckley, RH; Parikh, S; Chellapandian, D; Oshrine, BR; Bednarski, JJ; Cooper, MA; Shenoy, S; Davila Saldana, BJ; Forbes, LR; Martinez, C; Haddad, E; Shyr, DC; Chen, K; Sullivan, KE; Heimall, J; Wright, N; Bhatia, M; Cuvelier, GDE; Goldman, FD; Meyts, I; Miller, HK; Seidel, MG; Vander Lugt, MT; Bacchetta, R; Weinacht, KG; Andolina, JR; Caywood, E; Chong, H; de la Morena, MT; Aquino, VM; Shereck, E; Walter, JE; Dorsey, MJ; Seroogy, CM; Griffith, LM; Kohn, DB; Puck, JM; Pulsipher, MA; Torgerson, TR Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
Front Immunol. 2020; 11: 239-239. [OPEN ACCESS]
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Drake, M; Frid, P; Hansen, BM; Wu, O; Giese, AK; Schirmer, MD; Donahue, K; Cloonan, L; Irie, RE; Bouts, MJRJ; McIntosh, EC; Mocking, SJT; Dalca, AV; Sridharan, R; Xu, H; Giralt-Steinhauer, E; Holmegaard, L; Jood, K; Roquer, J; Cole, JW; McArdle, PF; Broderick, JP; Jiménez-Conde, J; Jern, C; Kissela, BM; Kleindorfer, DO; Lemmens, R; Meschia, JF; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Thijs, V; Woo, D; Worrall, BB; Kittner, SJ; Mitchell, BD; Rosand, J; Golland, P; Lindgren, A; Rost, NS; Wassélius, J Diffusion-Weighted Imaging, MR Angiography, and Baseline Data in a Systematic Multicenter Analysis of 3,301 MRI Scans of Ischemic Stroke Patients-Neuroradiological Review Within the MRI-GENIE Study.
Front Neurol. 2020; 11(1):577-577 [OPEN ACCESS]
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Fokkens, WJ; Lund, VJ; Hopkins, C; Hellings, PW; Kern, R; Reitsma, S; Toppila-Salmi, S; Bernal-Sprekelsen, M; Mullol, J; Alobid, I; Terezinha Anselmo-Lima, W; Bachert, C; Baroody, F; von Buchwald, C; Cervin, A; Cohen, N; Constantinidis, J; De Gabory, L; Desrosiers, M; Diamant, Z; Douglas, RG; Gevaert, PH; Hafner, A; Harvey, RJ; Joos, GF; Kalogjera, L; Knill, A; Kocks, JH; Landis, BN; Limpens, J; Lebeer, S; Lourenco, O; Meco, C; Matricardi, PM; O'Mahony, L; Philpott, CM; Ryan, D; Schlosser, R; Senior, B; Smith, TL; Teeling, T; Tomazic, PV; Wang, DY; Wang, D; Zhang, L; Agius, AM; Ahlstrom-Emanuelsson, C; Alabri, R; Albu, S; Alhabash, S; Aleksic, A; Aloulah, M; Al-Qudah, M; Alsaleh, S; Baban, MA; Baudoin, T; Balvers, T; Battaglia, P; Bedoya, JD; Beule, A; Bofares, KM; Braverman, I; Brozek-Madry, E; Richard, B; Callejas, C; Carrie, S; Caulley, L; Chussi, D; de Corso, E; Coste, A; El Hadi, U; Elfarouk, A; Eloy, PH; Farrokhi, S; Felisati, G; Ferrari, MD; Fishchuk, R; Grayson, W; Goncalves, PM; Grdinic, B; Grgic, V; Hamizan, AW; Heinichen, JV; Husain, S; Ping, TI; Ivaska, J; Jakimovska, F; Jovancevic, L; Kakande, E; Kamel, R; Karpischenko, S; Kariyawasam, HH; Kawauchi, H; Kjeldsen, A; Klimek, L; Krzeski, A; Kopacheva Barsova, G; Kim, SW; Lal, D; Letort, JJ; Lopatin, A; Mahdjoubi, A; Mesbahi, A; Netkovski, J; Nyenbue Tshipukane, D; Obando-Valverde, A; Okano, M; Onerci, M; Ong, YK; Orlandi, R; Otori, N; Ouennoughy, K; Ozkan, M; Peric, A; Plzak, J; Prokopakis, E; Prepageran, N; Psaltis, A; Pugin, B; Raftopulos, M; Rombaux, P; Riechelmann, H; Sahtout, S; Sarafoleanu, CC; Searyoh, K; Rhee, CS; Shi, J; Shkoukani, M; Shukuryan, AK; Sicak, M; Smyth, D; Snidvongs, K; Soklic Kosak, T; Stjarne, P; Sutikno, B; Steinsvag, S; Tantilipikorn, P; Thanaviratananich, S; Tran, T; Urbancic, J; Valiulius, A; Vasquez de Aparicio, C; Vicheva, D; Virkkula, PM; Vicente, G; Voegels, R; Wagenmann, MM; Wardani, RS; Welge-Lussen, A; Witterick, I; Wright, E; Zabolotniy, D; Zsolt, B; Zwetsloot, CP European Position Paper on Rhinosinusitis and Nasal Polyps 2020.
Rhinology. 2020; 58(Suppl S29):1-464
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Georgiou, M; Kane, T; Tanna, P; Bouzia, Z; Singh, N; Kalitzeos, A; Strauss, RW; Fujinami, K; Michaelides, M Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Am J Ophthalmol. 2020; 211(4):159-175 [OPEN ACCESS]
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Giese, AK; Schirmer, MD; Dalca, AV; Sridharan, R; Donahue, KL; Nardin, M; Irie, R; McIntosh, EC; Mocking, SJT; Xu, H; Cole, JW; Giralt-Steinhauer, E; Jimenez-Conde, J; Jern, C; Kleindorfer, DO; Lemmens, R; Wasselius, J; Lindgren, A; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Thijs, V; Worrall, BB; Woo, D; Kittner, SJ; McArdle, PF; Mitchell, BD; Rosand, J; Meschia, JF; Wu, O; Golland, P; Rost, NS; International Stroke Genetics Consortium and the MRI-GENIE Investigators White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype.
Neurology. 2020; 95(1):e79-e88-e79-e88 [OPEN ACCESS]
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Haybaeck, J; Roessner, A [Malignant round cell tumors : The Ewing sarcoma and beyond].
Pathologe. 2020; 41(2):116-122
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Mancuso, M; Arnold, M; Bersano, A; Burlina, A; Chabriat, H; Debette, S; Enzinger, C; Federico, A; Filla, A; Finsterer, J; Hunt, D; Lesnik Oberstein, S; Tournier-Lasserve, E; Markus, HS Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Eur J Neurol. 2020;
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Mashbat, B; Bellos, E; Hodeib, S; Bidmos, F; Thwaites, RS; Lu, Y; Wright, VJ; Herberg, JA; Klobassa, DS; Zenz, W; Hansel, TT; Nadel, S; Langford, PR; Schlapbach, LJ; Li, MS; Redinbo, MR; Di, YP; Levin, M; Sancho-Shimizu, V A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Clin Infect Dis. 2020; 70(10):2045-2053 [OPEN ACCESS]
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Roessner, A; Schoeder, V; Smolle, M; Haybäck, J [Osteoid-forming bone tumors : Morphology and current translational cell biology].
Pathologe. 2020; 41(2):123-133
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Schirmer, MD; Donahue, KL; Nardin, MJ; Dalca, AV; Giese, AK; Etherton, MR; Mocking, SJT; McIntosh, EC; Cole, JW; Holmegaard, L; Jood, K; Jimenez-Conde, J; Kittner, SJ; Lemmens, R; Meschia, JF; Rosand, J; Roquer, J; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Stanne, TM; Vagal, A; Wasselius, J; Woo, D; Bevan, S; Heitsch, L; Phuah, CL; Strbian, D; Tatlisumak, T; Levi, CR; Attia, J; McArdle, PF; Worrall, BB; Wu, O; Jern, C; Lindgren, A; Maguire, J; Thijs, V; Rost, NS; MRI-GENIE and GISCOME Investigators and the International Stroke Genetics Consortium Brain Volume: An Important Determinant of Functional Outcome After Acute Ischemic Stroke.
Mayo Clin Proc. 2020; 95(5):955-965
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Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; Farmery, JHR; Simeoni, I; Rivers, E; Maimaris, J; Penkett, CJ; Stephens, J; Deevi, SVV; Sanchis-Juan, A; Gleadall, NS; Thomas, MJ; Sargur, RB; Gordins, P; Baxendale, HE; Brown, M; Tuijnenburg, P; Worth, A; Hanson, S; Linger, RJ; Buckland, MS; Rayner-Matthews, PJ; Gilmour, KC; Samarghitean, C; Seneviratne, SL; Sansom, DM; Lynch, AG; Megy, K; Ellinghaus, E; Ellinghaus, D; Jorgensen, SF; Karlsen, TH; Stirrups, KE; Cutler, AJ; Kumararatne, DS; Chandra, A; Edgar, JDM; Herwadkar, A; Cooper, N; Grigoriadou, S; Huissoon, AP; Goddard, S; Jolles, S; Schuetz, C; Boschann, F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons, PA; Hurles, ME; Savic, S; Burns, SO; Kuijpers, TW; Turro, E; Ouwehand, WH; Thrasher, AJ; Smith, KGC Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature. 2020; 583(7814): 90-95. [OPEN ACCESS]
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Trummer, O; Schweighofer, N; Haudum, CW; Trummer, C; Pilz, S; Theiler-Schwetz, V; Keppel, MH; Grübler, M; Pieber, TR; Renner, W; Obermayer-Pietsch, B; Lerchbaum, E Genetic Components of 25-Hydroxyvitamin D Increase in Three Randomized Controlled Trials.
J Clin Med. 2020; 9(2): [OPEN ACCESS]
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2019

Adams, HHH; Roshchupkin, GV; DeCarli, C; Franke, B; Grabe, HJ; Habes, M; Jahanshad, N; Medland, SE; Niessen, W; Satizabal, CL; Schmidt, R; Seshadri, S; Teumer, A; Thompson, PM; Vernooij, MW; Wittfeld, K; Ikram, MA Full exploitation of high dimensionality in brain imaging: The JPND working group statement and findings.
Alzheimers Dement (Amst). 2019; 11: 286-290. [OPEN ACCESS]
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Aspelund, T; Grübler, MR; Smith, AV; Gudmundsson, EF; Keppel, M; Cotch, MF; Harris, TB; Jorde, R; Grimnes, G; Joakimsen, R; Schirmer, H; Wilsgaard, T; Mathiesen, EB; Njølstad, I; Løchen, ML; März, W; Kleber, ME; Tomaschitz, A; Grove-Laugesen, D; Rejnmark, L; Swart, KMA; Brouwer, IA; Lips, P; van Schoor, NM; Sempos, CT; Durazo-Arvizu, RA; Škrabáková, Z; Dowling, KG; Cashman, KD; Kiely, M; Pilz, S; Gudnason, V; Eiriksdottir, G Effect of Genetically Low 25-Hydroxyvitamin D on Mortality Risk: Mendelian Randomization Analysis in 3 Large European Cohorts.
Nutrients. 2019; 11(1): [OPEN ACCESS]
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Bengesser, SA; Mörkl, S; Painold, A; Dalkner, N; Birner, A; Fellendorf, FT; Platzer, M; Queissner, R; Hamm, C; Maget, A; Pilz, R; Rieger, A; Wagner-Skacel, J; Reininghaus, B; Kapfhammer, HP; Petek, E; Kashofer, K; Halwachs, B; Holzer, P; Waha, A; Reininghaus, EZ Epigenetics of the molecular clock and bacterial diversity in bipolar disorder.
Psychoneuroendocrinology. 2019; 101(6):160-166
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Budde, M; Anderson-Schmidt, H; Gade, K; Reich-Erkelenz, D; Adorjan, K; Kalman, JL; Senner, F; Papiol, S; Andlauer, TFM; Comes, AL; Schulte, EC; Klöhn-Saghatolislam, F; Gryaznova, A; Hake, M; Bartholdi, K; Flatau, L; Reitt, M; Quast, S; Stegmaier, S; Meyers, M; Emons, B; Haußleiter, IS; Juckel, G; Nieratschker, V; Dannlowski, U; Schaupp, SK; Schmauß, M; Zimmermann, J; Reimer, J; Schulz, S; Wiltfang, J; Reininghaus, E; Anghelescu, IG; Arolt, V; Baune, BT; Konrad, C; Thiel, A; Fallgatter, AJ; Figge, C; von Hagen, M; Koller, M; Lang, FU; Wigand, ME; Becker, T; Jäger, M; Dietrich, DE; Stierl, S; Scherk, H; Spitzer, C; Folkerts, H; Witt, SH; Degenhardt, F; Forstner, AJ; Rietschel, M; Nöthen, MM; Falkai, P; Schulze, TG; Heilbronner, U A longitudinal approach to biological psychiatric research: The PsyCourse study.
Am J Med Genet B Neuropsychiatr Genet. 2019; 180(2):89-102 [OPEN ACCESS]
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Curcic, S; Tiapko, O; Groschner, K Photopharmacology and opto-chemogenetics of TRPC channels-some therapeutic visions.
PHARMACOL THERAPEUT. 2019; 200(5): 13-26. [OPEN ACCESS]
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Frid, P; Drake, M; Giese, AK; Wasselius, J; Schirmer, MD; Donahue, KL; Cloonan, L; Irie, R; Bouts, MJRJ; McIntosh, EC; Mocking, SJT; Dalca, AV; Sridharan, R; Xu, H; Giralt-Steinhauer, E; Holmegaard, L; Jood, K; Roquer, J; Cole, JW; McArdle, PF; Broderick, JP; Jimenez-Conde, J; Jern, C; Kissela, BM; Kleindorfer, DO; Lemmens, R; Meschia, JF; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Thijs, V; Woo, D; Worrall, BB; Kittner, SJ; Mitchell, BD; Petersson, J; Rosand, J; Golland, P; Wu, O; Rost, NS; Lindgren, A; Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), and the MRI-Genetics Interface Exploration (MRI-GENIE) Study Detailed phenotyping of posterior vs. anterior circulation ischemic stroke: a multi-center MRI study.
J Neurol. 2019; [OPEN ACCESS]
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Geissler, K; Jäger, E; Barna, A; Gurbisz, M; Marschon, R; Graf, T; Graf, E; Borjan, B; Jilch, R; Geissler, C; Hoermann, G; Esterbauer, H; Schwarzinger, I; Nösslinger, T; Pfeilstöcker, M; Tüchler, H; Reisner, R; Sliwa, T; Keil, F; Bettelheim, P; Machherndl-Spandl, S; Doleschal, B; Zach, O; Weltermann, A; Heibl, S; Thaler, J; Zebisch, A; Sill, H; Stauder, R; Webersinke, G; Petzer, A; Kusec, R; Ulsperger, E; Schneeweiss, B; Berger, J; Öhler, L; Germing, U; Sperr, WR; Knöbl, P; Jäger, U; Valent, P The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) : A representative and useful real-life data source for further biomedical research.
Wien Klin Wochenschr. 2019; 131(17-18):410-418 [OPEN ACCESS]
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Gonçalves, IF; Acar, E; Costantino, S; Szabo, PL; Hamza, O; Tretter, EV; Klein, KU; Trojanek, S; Abraham, D; Paneni, F; Hallström, S; Kiss, A; Podesser, BK Epigenetic modulation of tenascin C in the heart: implications on myocardial ischemia, hypertrophy and metabolism.
J Hypertens. 2019; 37(9):1861-1870
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Hansmann, G; Koestenberger, M; Alastalo, TP; Apitz, C; Austin, ED; Bonnet, D; Budts, W; D'Alto, M; Gatzoulis, MA; Hasan, BS; Kozlik-Feldmann, R; Kumar, RK; Lammers, AE; Latus, H; Michel-Behnke, I; Miera, O; Morrell, NW; Pieles, G; Quandt, D; Sallmon, H; Schranz, D; Tran-Lundmark, K; Tulloh, RMR; Warnecke, G; Wåhlander, H; Weber, SC; Zartner, P 2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT.
J HEART LUNG TRANSPL. 2019; 38(9): 879-901. [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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Hutterer, GC Special Issue on Molecular Research Efforts in Urothelial Carcinoma: Summary of Included Topics.
Int J Mol Sci. 2019; 20(15): 3790 [OPEN ACCESS]
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Kalman, JL; Papiol, S; Forstner, AJ; Heilbronner, U; Degenhardt, F; Strohmaier, J; Adli, M; Adorjan, K; Akula, N; Alda, M; Anderson-Schmidt, H; Andlauer, TF; Anghelescu, IG; Ardau, R; Arias, B; Arolt, V; Aubry, JM; Backlund, L; Bartholdi, K; Bauer, M; Baune, BT; Becker, T; Bellivier, F; Benabarre, A; Bengesser, S; Bhattacharjee, AK; Biernacka, JM; Birner, A; Brichant-Petitjean, C; Budde, M; Cervantes, P; Chillotti, C; Cichon, S; Clark, SR; Colom, F; Comes, AL; Cruceanu, C; Czerski, PM; Dannlowski, U; Dayer, A; Del Zompo, M; DePaulo, JR; Dietrich, DE; Étain, B; Ethofer, T; Falkai, P; Fallgatter, A; Figge, C; Flatau, L; Folkerts, H; Frisen, L; Frye, MA; Fullerton, JM; Gade, K; Gard, S; Garnham, JS; Goes, FS; Grigoroiu-Serbanescu, M; Gryaznova, A; Hake, M; Hauser, J; Herms, S; Hoffmann, P; Hou, L; Jäger, M; Jamain, S; Jiménez, E; Juckel, G; Kahn, JP; Kassem, L; Kelsoe, J; Kittel-Schneider, S; Kliwicki, S; Klohn-Sagatholislam, F; Koller, M; König, B; Konrad, C; Lackner, N; Laje, G; Landén, M; Lang, FU; Lavebratt, C; Leboyer, M; Leckband, SG; Maj, M; Manchia, M; Martinsson, L; McCarthy, MJ; McElroy, SL; McMahon, FJ; Mitchell, PB; Mitjans, M; Mondimore, FM; Monteleone, P; Nieratschker, V; Nievergelt, CM; Novák, T; Ösby, U; Pfennig, A; Potash, JB; Reich-Erkelenz, D; Reif, A; Reimer, J; Reininghaus, E; Reitt, M; Ripke, S; Rouleau, GA; Rybakowski, JK; Schalling, M; Scherk, H; Schmauß, M; Schofield, PR; Schubert, KO; Schulte, EC; Schulz, S; Senner, F; Severino, G; Shekhtman, T; Shilling, PD; Simhandl, C; Slaney, CM; Spitzer, C; Squassina, A; Stamm, T; Stegmaier, S; Stierl, S; Stopkova, P; Thiel, A; Tighe, SK; Tortorella, A; Turecki, G; Vieta, E; Veeh, J; von Hagen, M; Wigand, ME; Wiltfang, J; Witt, S; Wright, A; Zandi, PP; Zimmermann, J; Nöthen, M; Rietschel, M; Schulze, TG Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.
Bipolar Disord. 2019; 21(1):68-75 [OPEN ACCESS]
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Kalmbach, A; Schröder, C; Klein-Hitpass, L; Nordström, K; Ulz, P; Heitzer, E; Speicher, MR; Rahmann, S; Wieczorek, D; Horsthemke, B; Bramswig, NC Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome.
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Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; Vronskaya, M; van der Lee, SJ; Amlie-Wolf, A; Bellenguez, C; Frizatti, A; Chouraki, V; Martin, ER; Sleegers, K; Badarinarayan, N; Jakobsdottir, J; Hamilton-Nelson, KL; Moreno-Grau, S; Olaso, R; Raybould, R; Chen, Y; Kuzma, AB; Hiltunen, M; Morgan, T; Ahmad, S; Vardarajan, BN; Epelbaum, J; Hoffmann, P; Boada, M; Beecham, GW; Garnier, JG; Harold, D; Fitzpatrick, AL; Valladares, O; Moutet, ML; Gerrish, A; Smith, AV; Qu, L; Bacq, D; Denning, N; Jian, X; Zhao, Y; Del Zompo, M; Fox, NC; Choi, SH; Mateo, I; Hughes, JT; Adams, HH; Malamon, J; Sanchez-Garcia, F; Patel, Y; Brody, JA; Dombroski, BA; Naranjo, MCD; Daniilidou, M; Eiriksdottir, G; Mukherjee, S; Wallon, D; Uphill, J; Aspelund, T; Cantwell, LB; Garzia, F; Galimberti, D; Hofer, E; Butkiewicz, M; Fin, B; Scarpini, E; Sarnowski, C; Bush, WS; Meslage, S; Kornhuber, J; White, CC; Song, Y; Barber, RC; Engelborghs, S; Sordon, S; Voijnovic, D; Adams, PM; Vandenberghe, R; Mayhaus, M; Cupples, LA; Albert, MS; De Deyn, PP; Gu, W; Himali, JJ; Beekly, D; Squassina, A; Hartmann, AM; Orellana, A; Blacker, D; Rodriguez-Rodriguez, E; Lovestone, S; Garcia, ME; Doody, RS; Munoz-Fernadez, C; Sussams, R; Lin, H; Fairchild, TJ; Benito, YA; Holmes, C; Karamujić-Čomić, H; Frosch, MP; Thonberg, H; Maier, W; Roschupkin, G; Ghetti, B; Giedraitis, V; Kawalia, A; Li, S; Huebinger, RM; Kilander, L; Moebus, S; Hernández, I; Kamboh, MI; Brundin, R; Turton, J; Yang, Q; Katz, MJ; Concari, L; Lord, J; Beiser, AS; Keene, CD; Helisalmi, S; Kloszewska, I; Kukull, WA; Koivisto, AM; Lynch, A; Tarraga, L; Larson, EB; Haapasalo, A; Lawlor, B; Mosley, TH; Lipton, RB; Solfrizzi, V; Gill, M; Longstreth, WT; Montine, TJ; Frisardi, V; Diez-Fairen, M; Rivadeneira, F; Petersen, RC; Deramecourt, V; Alvarez, I; Salani, F; Ciaramella, A; Boerwinkle, E; Reiman, EM; Fievet, N; Rotter, JI; Reisch, JS; Hanon, O; Cupidi, C; Andre Uitterlinden, AG; Royall, DR; Dufouil, C; Maletta, RG; de Rojas, I; Sano, M; Brice, A; Cecchetti, R; George-Hyslop, PS; Ritchie, K; Tsolaki, M; Tsuang, DW; Dubois, B; Craig, D; Wu, CK; Soininen, H; Avramidou, D; Albin, RL; Fratiglioni, L; Germanou, A; Apostolova, LG; Keller, L; Koutroumani, M; Arnold, SE; Panza, F; Gkatzima, O; Asthana, S; Hannequin, D; Whitehead, P; Atwood, CS; Caffarra, P; Hampel, H; Quintela, I; Carracedo, Á; Lannfelt, L; Rubinsztein, DC; Barnes, LL; Pasquier, F; Frölich, L; Barral, S; McGuinness, B; Beach, TG; Johnston, JA; Becker, JT; Passmore, P; Bigio, EH; Schott, JM; Bird, TD; Warren, JD; Boeve, BF; Lupton, MK; Bowen, JD; Proitsi, P; Boxer, A; Powell, JF; Burke, JR; Kauwe, JSK; Burns, JM; Mancuso, M; Buxbaum, JD; Bonuccelli, U; Cairns, NJ; McQuillin, A; Cao, C; Livingston, G; Carlson, CS; Bass, NJ; Carlsson, CM; Hardy, J; Carney, RM; Bras, J; Carrasquillo, MM; Guerreiro, R; Allen, M; Chui, HC; Fisher, E; Masullo, C; Crocco, EA; DeCarli, C; Bisceglio, G; Dick, M; Ma, L; Duara, R; Graff-Radford, NR; Evans, DA; Hodges, A; Faber, KM; Scherer, M; Fallon, KB; Riemenschneider, M; Fardo, DW; Heun, R; Farlow, MR; Kölsch, H; Ferris, S; Leber, M; Foroud, TM; Heuser, I; Galasko, DR; Giegling, I; Gearing, M; Hüll, M; Geschwind, DH; Gilbert, JR; Morris, J; Green, RC; Mayo, K; Growdon, JH; Feulner, T; Hamilton, RL; Harrell, LE; Drichel, D; Honig, LS; Cushion, TD; Huentelman, MJ; Hollingworth, P; Hulette, CM; Hyman, BT; Marshall, R; Jarvik, GP; Meggy, A; Abner, E; Menzies, GE; Jin, LW; Leonenko, G; Real, LM; Jun, GR; Baldwin, CT ... Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nat Genet. 2019; 51(3): 414-430. [OPEN ACCESS]
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Kuret, T; Burja, B; Feichtinger, J; Thallinger, GG; Frank-Bertoncelj, M; Lakota, K; Žigon, P; Sodin-Semrl, S; Čučnik, S; Tomšič, M; Hočevar, A Gene and miRNA expression in giant cell arteritis-a concise systematic review of significantly modified studies.
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Lahousen, T; Unterrainer, HF; Kapfhammer, HP Psychobiology of Attachment and Trauma-Some General Remarks From a Clinical Perspective
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Marini, S; Crawford, K; Morotti, A; Lee, MJ; Pezzini, A; Moomaw, CJ; Flaherty, ML; Montaner, J; Roquer, J; Jimenez-Conde, J; Giralt-Steinhauer, E; Elosua, R; Cuadrado-Godia, E; Soriano-Tarraga, C; Slowik, A; Jagiella, JM; Pera, J; Urbanik, A; Pichler, A; Hansen, BM; McCauley, JL; Tirschwell, DL; Selim, M; Brown, DL; Silliman, SL; Worrall, BB; Meschia, JF; Kidwell, CS; Testai, FD; Kittner, SJ; Schmidt, H; Enzinger, C; Deary, IJ; Rannikmae, K; Samarasekera, N; Al-Shahi Salman, R; Sudlow, CL; Klijn, CJM; van Nieuwenhuizen, KM; Fernandez-Cadenas, I; Delgado, P; Norrving, B; Lindgren, A; Goldstein, JN; Viswanathan, A; Greenberg, SM; Falcone, GJ; Biffi, A; Langefeld, CD; Woo, D; Rosand, J; Anderson, CD; International Stroke Genetics Consortium Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity: A Meta-analysis.
JAMA Neurol. 2019; 140(1): [OPEN ACCESS]
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Muzammal, M; Zubair, M; Bierbaumer, S; Blatterer, J; Graf, R; Gul, A; Abbas, S; Badar, M; Abbasi, AA; Khan, MA; Windpassinger, C Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
MOL GENET GENOM MED. 2019; 7(8): e834-e834. [OPEN ACCESS]
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Popper, HH; Stacher-Priehse, E; Brcic, L; Eidsenhammer, S; Gallob, F; Rampp, F; Nerlich, A Autophagy and senescence are activated mechanisms in idiopathic or autoimmunity caused usual interstitial pneumonia
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Rath, M; Spiegler, S; Strom, TM; Trenkler, J; Kroisel, PM; Felbor, U Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
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Sabater-Lleal, M; Huffman, JE; de Vries, PS; Marten, J; Mastrangelo, MA; Song, C; Pankratz, N; Ward-Caviness, CK; Yanek, LR; Trompet, S; Delgado, GE; Guo, X; Bartz, TM; Martinez-Perez, A; Germain, M; de Haan, HG; Ozel, AB; Polasek, O; Smith, AV; Eicher, JD; Reiner, AP; Tang, W; Davies, NM; Stott, DJ; Rotter, JI; Tofler, GH; Boerwinkle, E; de Maat, MPM; Kleber, ME; Welsh, P; Brody, JA; Chen, MH; Vaidya, D; Soria, JM; Suchon, P; van Hylckama Vlieg, A; Desch, KC; Kolcic, I; Joshi, PK; Launer, LJ; Harris, TB; Campbell, H; Rudan, I; Becker, DM; Li, JZ; Rivadeneira, F; Uitterlinden, AG; Hofman, A; Franco, OH; Cushman, M; Psaty, BM; Morange, PE; McKnight, B; Chong, MR; Fernandez-Cadenas, I; Rosand, J; Lindgren, A; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC); Gudnason, V; Wilson, JF; Hayward, C; Ginsburg, D; Fornage, M; Rosendaal, FR; Souto, JC; Becker, LC; Jenny, NS; März, W; Jukema, JW; Dehghan, A; Trégouët, DA; Morrison, AC; Johnson, AD; O'Donnell, CJ; Strachan, DP; Lowenstein, CJ; Smith, NL Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
CIRCULATION. 2019; 139(5): 620-635. [OPEN ACCESS]
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Scott, J; Etain, B; Manchia, M; Brichant-Petitjean, C; Geoffroy, P; Schulze, T; Alda, M; Bellivier, F; ConLiGen collaborators An examination of the quality and performance of the Alda scale for classifying lithium response phenotypes.
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Seidel, MG; Kindle, G; Gathmann, B; Quinti, I; Buckland, M; van Montfrans, J; Scheible, R; Rusch, S; Gasteiger, LM; Grimbacher, B; Mahlaoui, N; Ehl, S; ESID Registry Working Party and collaborators The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
J Allergy Clin Immunol Pract. 2019; 7(6):1763-1770
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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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Trüeb, RM; Jolliffe, VML; Régnier, AF; Dutra Rezende, H; Vañó-Galván, S; Kopera, D; Ioannides, D; Gavazzoni Dias, MFR; Macpherson, M; Gadzhigoroeva, A; Ovcharenko, J; Lee, WS; Murugusundram, S; Kurata, S; Chang, M; Tanglertsampan, C Precision Medicine and the Practice of Trichiatry: Adapting the Concept.
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van der Lee, SJ; Knol, MJ; Chauhan, G; Satizabal, CL; Smith, AV; Hofer, E; Bis, JC; Hibar, DP; Hilal, S; van den Akker, EB; Arfanakis, K; Bernard, M; Yanek, LR; Amin, N; Crivello, F; Cheung, JW; Harris, TB; Saba, Y; Lopez, OL; Li, S; van der Grond, J; Yu, L; Paus, T; Roshchupkin, GV; Amouyel, P; Jahanshad, N; Taylor, KD; Yang, Q; Mathias, RA; Boehringer, S; Mazoyer, B; Rice, K; Cheng, CY; Maillard, P; van Heemst, D; Wong, TY; Niessen, WJ; Beiser, AS; Beekman, M; Zhao, W; Nyquist, PA; Chen, C; Launer, LJ; Psaty, BM; Ikram, MK; Vernooij, MW; Schmidt, H; Pausova, Z; Becker, DM; De Jager, PL; Thompson, PM; van Duijn, CM; Bennett, DA; Slagboom, PE; Schmidt, R; Longstreth, WT; Ikram, MA; Seshadri, S; Debette, S; Gudnason, V; Adams, HHH; DeCarli, C A genome-wide association study identifies genetic loci associated with specific lobar brain volumes.
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Wadsack, D; Sattler, H; Kleber, ME; Eirich, K; Scharnagl, H; Fauler, G; März, W; Grammer, TB Recurrent tendosynovitis as a rare manifestation of a lipid disorder.
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Wu, O; Winzeck, S; Giese, AK; Hancock, BL; Etherton, MR; Bouts, MJRJ; Donahue, K; Schirmer, MD; Irie, RE; Mocking, SJT; McIntosh, EC; Bezerra, R; Kamnitsas, K; Frid, P; Wasselius, J; Cole, JW; Xu, H; Holmegaard, L; Jiménez-Conde, J; Lemmens, R; Lorentzen, E; McArdle, PF; Meschia, JF; Roquer, J; Rundek, T; Sacco, RL; Schmidt, R; Sharma, P; Slowik, A; Stanne, TM; Thijs, V; Vagal, A; Woo, D; Bevan, S; Kittner, SJ; Mitchell, BD; Rosand, J; Worrall, BB; Jern, C; Lindgren, AG; Maguire, J; Rost, NS Big Data Approaches to Phenotyping Acute Ischemic Stroke Using Automated Lesion Segmentation of Multi-Center Magnetic Resonance Imaging Data.
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Berger, AW; Raedler, K; Langner, C; Ludwig, L; Dikopoulos, N; Becker, KF; Slotta-Huspenina, J; Quante, M; Schwerdel, D; Perkhofer, L; Kleger, A; Zizer, E; Oswald, F; Seufferlein, T; Meining, A Genetic Biopsy for Prediction of Surveillance Intervals after Endoscopic Resection of Colonic Polyps: Results of the GENESIS Study.
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Day, F; Karaderi, T; Jones, MR; Meun, C; He, C; Drong, A; Kraft, P; Lin, N; Huang, H; Broer, L; Magi, R; Saxena, R; Laisk, T; Urbanek, M; Hayes, MG; Thorleifsson, G; Fernandez-Tajes, J; Mahajan, A; Mullin, BH; Stuckey, BGA; Spector, TD; Wilson, SG; Goodarzi, MO; Davis, L; Obermayer-Pietsch, B; Uitterlinden, AG; Anttila, V; Neale, BM; Jarvelin, MR; Fauser, B; Kowalska, I; Visser, JA; Andersen, M; Ong, K; Stener-Victorin, E; Ehrmann, D; Legro, RS; Salumets, A; McCarthy, MI; Morin-Papunen, L; Thorsteinsdottir, U; Stefansson, K; 23andMe Research Team; Styrkarsdottir, U; Perry, JRB; Dunaif, A; Laven, J; Franks, S; Lindgren, CM; Welt, CK Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PLoS Genet. 2018; 14(12):e1007813-e1007813 [OPEN ACCESS]
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Emons, G; Steiner, E; Vordermark, D; Uleer, C; Bock, N; Paradies, K; Ortmann, O; Aretz, S; Mallmann, P; Kurzeder, C; Hagen, V; van Oorschot, B; Höcht, S; Feyer, P; Egerer, G; Friedrich, M; Cremer, W; Prott, FJ; Horn, LC; Prömpeler, H; Langrehr, J; Leinung, S; Beckmann, MW; Kimmig, R; Letsch, A; Reinhardt, M; Alt-Epping, B; Kiesel, L; Menke, J; Gebhardt, M; Steinke-Lange, V; Rahner, N; Lichtenegger, W; Zeimet, A; Hanf, V; Weis, J; Mueller, M; Henscher, U; Schmutzler, RK; Meindl, A; Hilpert, F; Panke, JE; Strnad, V; Niehues, C; Dauelsberg, T; Niehoff, P; Mayr, D; Grab, D; Kreißl, M; Witteler, R; Schorsch, A; Mustea, A; Petru, E; Hübner, J; Rose, AD; Wight, E; Tholen, R; Bauerschmitz, GJ; Fleisch, M; Juhasz-Boess, I; Sigurd, L; Runnebaum, I; Tempfer, C; Nothacker, MJ; Blödt, S; Follmann, M; Langer, T; Raatz, H; Wesselmann, S; Erdogan, S Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.
Geburtshilfe Frauenheilkd. 2018; 78(10):949-971 [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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International Consortium on Lithium Genetics (ConLi+Gen); Amare, AT; Schubert, KO; Hou, L; Clark, SR; Papiol, S; Heilbronner, U; Degenhardt, F; Tekola-Ayele, F; Hsu, YH; Shekhtman, T; Adli, M; Akula, N; Akiyama, K; Ardau, R; Arias, B; Aubry, JM; Backlund, L; Bhattacharjee, AK; Bellivier, F; Benabarre, A; Bengesser, S; Biernacka, JM; Birner, A; Brichant-Petitjean, C; Cervantes, P; Chen, HC; Chillotti, C; Cichon, S; Cruceanu, C; Czerski, PM; Dalkner, N; Dayer, A; Del Zompo, M; DePaulo, JR; Étain, B; Falkai, P; Forstner, AJ; Frisen, L; Frye, MA; Fullerton, JM; Gard, S; Garnham, JS; Goes, FS; Grigoroiu-Serbanescu, M; Grof, P; Hashimoto, R; Hauser, J; Herms, S; Hoffmann, P; Hofmann, A; Jamain, S; Jiménez, E; Kahn, JP; Kassem, L; Kuo, PH; Kato, T; Kelsoe, J; Kittel-Schneider, S; Kliwicki, S; König, B; Kusumi, I; Laje, G; Landén, M; Lavebratt, C; Leboyer, M; Leckband, SG; Tortorella, A; Manchia, M; Martinsson, L; McCarthy, MJ; McElroy, S; Colom, F; Mitjans, M; Mondimore, FM; Monteleone, P; Nievergelt, CM; Nöthen, MM; Novák, T; O'Donovan, C; Ozaki, N; Ösby, U; Pfennig, A; Potash, JB; Reif, A; Reininghaus, E; Rouleau, GA; Rybakowski, JK; Schalling, M; Schofield, PR; Schweizer, BW; Severino, G; Shilling, PD; Shimoda, K; Simhandl, C; Slaney, CM; Squassina, A; Stamm, T; Stopkova, P; Maj, M; Turecki, G; Vieta, E; Volkert, J; Witt, S; Wright, A; Zandi, PP; Mitchell, PB; Bauer, M; Alda, M; Rietschel, M; McMahon, FJ; Schulze, TG; Baune, BT Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study.
JAMA Psychiatry. 2018; 75(1):65-74 [OPEN ACCESS]
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Kriegshäuser, G; Enko, D; Hayrapetyan, H; Atoyan, S; Oberkanins, C; Sarkisian, T Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.
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Lahousen, T; Kapfhammer, HP [Anxiety disorders - clinical and neurobiological aspects].
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