Scientific Publications Search Search Author Impact Factor Release Date Research Group Search Sort by RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Order AscDesc Bader, Michael Prof. Dr. (2) Birchmeier, Walter Prof. Dr. (2) Birchmeier-Kohler, Carmen Prof. Dr. (1) Edes, Inan Dr. (1) Gerhardt, Holger Prof. Dr. (1) Graf, Robin Dr. (2) Grossmann, Katja Dr. (1) Hodge, Russell (1) Infante Duarte, Carmen (1) Janz, Martin Dr. (2) Jüttner, Rene Dr. (2) Kettenmann, Helmut Prof. Dr. (2) Klix, Sabrina (3) Ku, Min-Chi Dr. (3) Lewin, Gary Prof. Dr. (1) Lupianez Garcia, Dario Jesus Dr. (1) Mathas, Stephan Dr. (1) Mekle, Ralf (1) Müller, Thomas Dr. (1) Münchberg, Stefanie (2) Niendorf, Thoralf Prof. Dr. (38) Paul, Friedemann Prof. Dr. med. (9) Popova, Elena Dr. (1) Potente, Michael Prof. Dr. (1) Qadri, Fatimunnisa Dr. (1) Rajewsky, Klaus Prof. Dr. (19) Rathjen, Fritz Prof. Dr. (4) Reimann, Henning Dr. (2) Scheidereit, Claus Prof. Dr. (1) Schulz-Menger, Jeanette Prof. Dr. (3) Selbach, Matthias Prof. Dr. (1) Semtner, Marcus Dr. (1) Siffrin, Volker (1) Todiras, Mihail (1) Uckert, Wolfgang Prof. Dr. (1) Waiczies, Sonia PD Dr. (10) Winter, Lukas Dr. (7) Wolf, Susanne Dr. (2) (-) Altmueller, Janine Dr.med. (45) (-) Chu, Van Trung Dr. (3) (-) Fischer, Cornelius Dr. (1) (-) Harabula, Izabela-Cezara (2) (-) Kühn, Ralf Dr. (2) 2002 (1) 2005 (2) 2011 (1) 2012 (2) 2013 (22) (-) 2014 (18) 2015 (32) (-) 2016 (37) 2017 (37) 2018 (45) 2019 (39) 2020 (33) 2021 (48) 2022 (41) 2023 (22) 2024 (7) Computational Regulatory Genomics (1) (-) Experimental Ultrahigh-Field MR (6) Genetics of Metabolic and Reproductive Disorders (1) Genome Engineering & Disease Models (10) (-) Genomics (46) (-) Immune Regulation and Cancer (3) Magnetic Resonance (6) Proteome Dynamics (1) RNA Biology and Posttranscriptional Regulation (1) Transgenics (10) 55 Results: Active Filter: Altmueller, Janine Dr.med.Chu, Van Trung Dr.Fischer, Cornelius Dr.Harabula, Izabela-CezaraKühn, Ralf Dr.Experimental Ultrahigh-Field MRGenomicsImmune Regulation and Cancer20142016 Sort: Result score Newest to oldest Oldest to newest July 08, 2016 / Canine Genet Epidemiol A large deletion in RPGR causes XLPRA in Weimaraner dogs R. Kropatsch D.A. Akkad M. Frank C. Rosenhagen J. Altmüller P. Nürnberg J.T. Epplen G. Dekomien August, 2016 / Acta Neuropathol Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy E. Volmering P. Niehusmann V. Peeva A. Grote G. Zsurka J. Altmüller P. Nürnberg A.J. Becker S. Schoch C.E. Elger W.S. Kunz June, 2016 / J Med Genet Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt N. Di Donato T. Neuhann A.K. Kahlert B. Klink K. Hackmann I. Neuhann B. Novotna J. Schallner C. Krause I.A. Glass S.E. Parnell A. Benet-Pages A.M. Nissen W. Berger J. Altmüller H. Thiele B.H.F. Weber E. Schrock W.B. Dobyns A. Bier A. Rump December 04, 2014 / Am J Hum Genet Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N. Ehmke A. Caliebe R. Koenig S.G. Kant Z. Stark V. Cormier-Daire D. Wieczorek G. Gillessen-Kaesbach K. Hoff A. Kawalia H. Thiele J. Altmüller B. Fischer-Zirnsak A. Knaus N. Zhu V. Heinrich C. Huber I. Harabula M. Spielmann D. Horn U. Kornak J. Hecht P.M. Krawitz P. Nürnberg R. Siebert H. Manzke S. Mundlos December, 2014 / Nat Genet Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy C.A. Martin I. Ahmad A. Klingseisen M.S. Hussain L.S. Bicknell A. Leitch G. Nürnberg M.R. Toliat J.E. Murray D. Hunt F. Khan Z. Ali S. Tinschert J. Ding C. Keith M.E. Harley P. Heyn R. Müller I. Hoffmann V. Cormier-Daire H. Dollfus L. Dupuis A. Bashamboo K. McElreavey A. Kariminejad R. Mendoza-Londono A.T. Moore A. Saggar C. Schlechter R. Weleber H. Thiele J. Altmüller W. Höhne M.E. Hurles A.A. Noegel S.M. Baig P. Nürnberg A.P. Jackson October, 2014 / Hum Mutat Mutation of POC1B in a severe syndromic retinal ciliopathy B.B. Beck J.B. Phillips M.P. Bartram J. Wegner M. Thoenes A. Pannes J. Sampson R. Heller H. Göbel F. Koerber A. Neugebauer A. Hedergott G. Nürnberg P. Nürnberg H. Thiele J. Altmüller M.R. Toliat S. Staubach K.M. Boycott E.M. Valente A.R. Janecke T. Eisenberger C. Bergmann L. Tebbe Y. Wang Y. Wu A.M. Fry M. Westerfield U. Wolfrum H.J. Bolz October 27, 2014 / J Cell Biol CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins J. Gao D. Schatton P. Martinelli H. Hansen D. Pla-Martin E. Barth C. Becker J. Altmueller P. Frommolt M. Sardiello E.I. Rugarli November 06, 2014 / Am J Hum Genet Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome M.S. Hussain A. Battaglia S. Szczepanski E. Kaygusuz M.R. Toliat S. Sakakibara J. Altmüller H. Thiele G. Nürnberg S. Moosa G. Yigit F. Beleggia S. Tinschert J. Clayton-Smith P. Vasudevan J.E. Urquhart D. Donnai A. Fryer F. Percin F. Brancati A. Dobbie R. Smigiel G. Gillessen-Kaesbach B. Wollnik A.A. Noegel W.G. Newman P. Nürnberg November 15, 2014 / Hum Mol Genet A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family M.A. Khan V.M. Rupp M. Orpinell M.S. Hussain J. Altmüller M.O. Steinmetz C. Enzinger H. Thiele W. Höhne G. Nürnberg S.M. Baig M. Ansar P. Nürnberg J.B. Vincent M.R. Speicher P. Gönczy C. Windpassinger September 09, 2014 / BMC Genomics Deciphering the genetic basis of microcystin tolerance A. Schwarzenberger T. Sadler S. Motameny K. Ben-Khalifa P. Frommolt J. Altmüller K. Konrad E. von Elert Pagination First page « First Previous page ‹ Previous … Page 2 Current page 3 Page 4 Page 5 … Next page Next › Last page Last »
July 08, 2016 / Canine Genet Epidemiol A large deletion in RPGR causes XLPRA in Weimaraner dogs R. Kropatsch D.A. Akkad M. Frank C. Rosenhagen J. Altmüller P. Nürnberg J.T. Epplen G. Dekomien
August, 2016 / Acta Neuropathol Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy E. Volmering P. Niehusmann V. Peeva A. Grote G. Zsurka J. Altmüller P. Nürnberg A.J. Becker S. Schoch C.E. Elger W.S. Kunz
June, 2016 / J Med Genet Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt N. Di Donato T. Neuhann A.K. Kahlert B. Klink K. Hackmann I. Neuhann B. Novotna J. Schallner C. Krause I.A. Glass S.E. Parnell A. Benet-Pages A.M. Nissen W. Berger J. Altmüller H. Thiele B.H.F. Weber E. Schrock W.B. Dobyns A. Bier A. Rump
December 04, 2014 / Am J Hum Genet Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome N. Ehmke A. Caliebe R. Koenig S.G. Kant Z. Stark V. Cormier-Daire D. Wieczorek G. Gillessen-Kaesbach K. Hoff A. Kawalia H. Thiele J. Altmüller B. Fischer-Zirnsak A. Knaus N. Zhu V. Heinrich C. Huber I. Harabula M. Spielmann D. Horn U. Kornak J. Hecht P.M. Krawitz P. Nürnberg R. Siebert H. Manzke S. Mundlos
December, 2014 / Nat Genet Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy C.A. Martin I. Ahmad A. Klingseisen M.S. Hussain L.S. Bicknell A. Leitch G. Nürnberg M.R. Toliat J.E. Murray D. Hunt F. Khan Z. Ali S. Tinschert J. Ding C. Keith M.E. Harley P. Heyn R. Müller I. Hoffmann V. Cormier-Daire H. Dollfus L. Dupuis A. Bashamboo K. McElreavey A. Kariminejad R. Mendoza-Londono A.T. Moore A. Saggar C. Schlechter R. Weleber H. Thiele J. Altmüller W. Höhne M.E. Hurles A.A. Noegel S.M. Baig P. Nürnberg A.P. Jackson
October, 2014 / Hum Mutat Mutation of POC1B in a severe syndromic retinal ciliopathy B.B. Beck J.B. Phillips M.P. Bartram J. Wegner M. Thoenes A. Pannes J. Sampson R. Heller H. Göbel F. Koerber A. Neugebauer A. Hedergott G. Nürnberg P. Nürnberg H. Thiele J. Altmüller M.R. Toliat S. Staubach K.M. Boycott E.M. Valente A.R. Janecke T. Eisenberger C. Bergmann L. Tebbe Y. Wang Y. Wu A.M. Fry M. Westerfield U. Wolfrum H.J. Bolz
October 27, 2014 / J Cell Biol CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins J. Gao D. Schatton P. Martinelli H. Hansen D. Pla-Martin E. Barth C. Becker J. Altmueller P. Frommolt M. Sardiello E.I. Rugarli
November 06, 2014 / Am J Hum Genet Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome M.S. Hussain A. Battaglia S. Szczepanski E. Kaygusuz M.R. Toliat S. Sakakibara J. Altmüller H. Thiele G. Nürnberg S. Moosa G. Yigit F. Beleggia S. Tinschert J. Clayton-Smith P. Vasudevan J.E. Urquhart D. Donnai A. Fryer F. Percin F. Brancati A. Dobbie R. Smigiel G. Gillessen-Kaesbach B. Wollnik A.A. Noegel W.G. Newman P. Nürnberg
November 15, 2014 / Hum Mol Genet A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family M.A. Khan V.M. Rupp M. Orpinell M.S. Hussain J. Altmüller M.O. Steinmetz C. Enzinger H. Thiele W. Höhne G. Nürnberg S.M. Baig M. Ansar P. Nürnberg J.B. Vincent M.R. Speicher P. Gönczy C. Windpassinger
September 09, 2014 / BMC Genomics Deciphering the genetic basis of microcystin tolerance A. Schwarzenberger T. Sadler S. Motameny K. Ben-Khalifa P. Frommolt J. Altmüller K. Konrad E. von Elert