Wissenschaftliche Publikationen Suche Suche Autor/in Forschungsgruppe Veröffentlichungsdatum Wirkungsfaktor Suchen Sortieren nach RelevanceFrom A-ZAuthored onDate/Time RangeRelease date Reihenfolge AufsteigendAbsteigend Fischer, Cornelius Dr. (1) Harabula, Izabela-Cezara (1) Lupianez Garcia, Dario Jesus Dr. (1) (-) Altmueller, Janine Dr.med. (29) AG Müller/Dechend (ECRC) (13) Animal Phenotyping (1) Ankerproteine und Signaltransduktion (1) Bioinformatik der Genregulation (1) Experimentelle Ultrahochfeld-MR (6) Genom-Editierung & Krankheitsmodelle (2) (-) Genomics (29) Hypertonie-vermittelter Endorganschaden (13) Hypertonie bedingte Endorganschäden (13) Immunregulation und Krebs (3) Kardiale MRT (1) Magnetic Resonance (6) Molekularbiologie von Hormonen im Herz-Kreislaufssystem (26) Nephrologie und entzündliche Gefäßerkrankungen (1) Proteom Dynamik (1) RNA Biologie und Posttranscriptionale Regulation (1) Transgenics (2) 2002 (1) 2005 (2) 2013 (21) 2014 (16) 2015 (25) (-) 2016 (29) 2017 (32) 2018 (39) 2019 (30) 2020 (25) 2021 (48) 2022 (37) 2023 (19) 2024 (4) 29 Ergebnisse: Active Filter: Altmueller, Janine Dr.med.Genomics2016 Sortieren: Treffgenauigkeit Neueste nach älteste Älteste nach neueste 08. Juli 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 Februar 2016 / Genome Res Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice M. Spielmann N. Kakar N. Tayebi C. Leettola G. Nürnberg N. Sowada D.G. Lupiáñez I. Harabula R. Flöttmann D. Horn W.L. Chan L. Wittler R. Yilmaz J. Altmüller H. Thiele H. van Bokhoven C.E. Schwartz P. Nürnberg J.U. Bowie J. Ahmad C. Kubisch S. Mundlos G. Borck 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 Juni 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 Januar 2016 / PLoS ONE Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing D. Lal B.A. Neubauer M.R. Toliat J. Altmüller H. Thiele P. Nürnberg C. Kamrath A. Schänzer T. Sander A. Hahn M. Nothnagel 08. Juli 2016 / PLoS ONE Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations A. Tiwari J. Lemke J. Altmüller H. Thiele E. Glaus J. Fleischhauer P. Nürnberg J. Neidhardt W. Berger 04. November 2016 / Sci Rep The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family C. Reiff M. Owczarek-Lipska G. Spital C. Röger H. Hinz C. Jüschke H. Thiele J. Altmüller P. Nürnberg R. Da Costa J. Neidhardt September 2016 / Am J Med Genet A A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival S. Moosa V. Fano M.G. Obregon J. Altmüller H. Thiele P. Nürnberg G. Nishimura B. Wollnik 13. Dezember 2016 / Breast Cancer-Targets Ther Expression and functionality of TRPV1 in breast cancer cells L.V. Weber K. Al-Refae G. Wölk G. Bonatz J. Altmüller C. Becker G. Gisselmann H. Hatt Seitennummerierung Erste Seite « First Vorherige Seite ‹ Previous Seite 1 Seite 2 Aktuelle Seite 3
08. Juli 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
Februar 2016 / Genome Res Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice M. Spielmann N. Kakar N. Tayebi C. Leettola G. Nürnberg N. Sowada D.G. Lupiáñez I. Harabula R. Flöttmann D. Horn W.L. Chan L. Wittler R. Yilmaz J. Altmüller H. Thiele H. van Bokhoven C.E. Schwartz P. Nürnberg J.U. Bowie J. Ahmad C. Kubisch S. Mundlos G. Borck
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
Juni 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
Januar 2016 / PLoS ONE Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing D. Lal B.A. Neubauer M.R. Toliat J. Altmüller H. Thiele P. Nürnberg C. Kamrath A. Schänzer T. Sander A. Hahn M. Nothnagel
08. Juli 2016 / PLoS ONE Identification of novel and recurrent disease-causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations A. Tiwari J. Lemke J. Altmüller H. Thiele E. Glaus J. Fleischhauer P. Nürnberg J. Neidhardt W. Berger
04. November 2016 / Sci Rep The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family C. Reiff M. Owczarek-Lipska G. Spital C. Röger H. Hinz C. Jüschke H. Thiele J. Altmüller P. Nürnberg R. Da Costa J. Neidhardt
September 2016 / Am J Med Genet A A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival S. Moosa V. Fano M.G. Obregon J. Altmüller H. Thiele P. Nürnberg G. Nishimura B. Wollnik
13. Dezember 2016 / Breast Cancer-Targets Ther Expression and functionality of TRPV1 in breast cancer cells L.V. Weber K. Al-Refae G. Wölk G. Bonatz J. Altmüller C. Becker G. Gisselmann H. Hatt