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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 01. Mai 2016 / Am J Med Genet A Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum S. Moosa M.G. Obregon J. Altmüller H. Thiele P. Nürnberg V. Fano B. Wollnik 02. Oktober 2016 / Clin Cancer Res Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors S. Ortiz-Cuaran M. Scheffler D. Plenker L. Dahmen A.H. Scheel L. Fernandez-Cuesta L. Meder C.M. Lovly T. Persigehl S. Merkelbach-Bruse M. Bos S. Michels R. Fischer K. Albus K. König H.U. Schildhaus Jana Fassunke M.A. Ihle H. Pasternack C. Heydt C. Becker J. Altmüller H. Ji C. Müller A. Florin J.M. Heuckmann P. Nuernberg S. Ansén L.C. Heukamp J. Berg W. Pao M. Peifer R. Buettner J. Wolf R.K. Thomas M.L. Sos 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 01. Mai 2016 / Chem Senses Transcriptome analysis of murine olfactory sensory neurons during development using single cell RNA-Seq P. Scholz B. Kalbe F. Jansen J. Altmüller C. Becker J. Mohrhardt B. Schreiner G. Gisselmann H. Hatt S. Osterloh 01. April 2016 / Fam Cancer Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis I. Spier M. Kerick D. Drichel S. Horpaopan J. Altmüller A. Laner S. Holzapfel S. Peters R. Adam B. Zhao T. Becker R.P. Lifton E. Holinski-Feder S. Perner H. Thiele M.M. Nöthen P. Hoffmann B. Timmermann M.R. Schweiger S. Aretz 01. Februar 2016 / Hum Genet A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family S. Szczepanski M.S. Hussain I. Sur J. Altmüller H. Thiele U. Abdullah S.S. Waseem A. Moawia G. Nürnberg A.A. Noegel S.M. Baig P. Nürnberg 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 01. Juni 2016 / PLoS Pathog The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis M. Tollot D. Assmann C. Becker J. Altmüller J.Y. Dutheil C.E. Wegner R. Kahmann 01. 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 Seitennummerierung Erste Seite « First Vorherige Seite ‹ Previous … Seite 2 Aktuelle Seite 3 Seite 4 Seite 5 … Nächste Seite Next › Letzte Seite Last »
01. 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
01. Mai 2016 / Am J Med Genet A Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: expanding the mutational spectrum S. Moosa M.G. Obregon J. Altmüller H. Thiele P. Nürnberg V. Fano B. Wollnik
02. Oktober 2016 / Clin Cancer Res Heterogeneous mechanisms of primary and acquired resistance to third-generation EGFR inhibitors S. Ortiz-Cuaran M. Scheffler D. Plenker L. Dahmen A.H. Scheel L. Fernandez-Cuesta L. Meder C.M. Lovly T. Persigehl S. Merkelbach-Bruse M. Bos S. Michels R. Fischer K. Albus K. König H.U. Schildhaus Jana Fassunke M.A. Ihle H. Pasternack C. Heydt C. Becker J. Altmüller H. Ji C. Müller A. Florin J.M. Heuckmann P. Nuernberg S. Ansén L.C. Heukamp J. Berg W. Pao M. Peifer R. Buettner J. Wolf R.K. Thomas M.L. Sos
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
01. Mai 2016 / Chem Senses Transcriptome analysis of murine olfactory sensory neurons during development using single cell RNA-Seq P. Scholz B. Kalbe F. Jansen J. Altmüller C. Becker J. Mohrhardt B. Schreiner G. Gisselmann H. Hatt S. Osterloh
01. April 2016 / Fam Cancer Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis I. Spier M. Kerick D. Drichel S. Horpaopan J. Altmüller A. Laner S. Holzapfel S. Peters R. Adam B. Zhao T. Becker R.P. Lifton E. Holinski-Feder S. Perner H. Thiele M.M. Nöthen P. Hoffmann B. Timmermann M.R. Schweiger S. Aretz
01. Februar 2016 / Hum Genet A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family S. Szczepanski M.S. Hussain I. Sur J. Altmüller H. Thiele U. Abdullah S.S. Waseem A. Moawia G. Nürnberg A.A. Noegel S.M. Baig P. Nürnberg
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
01. Juni 2016 / PLoS Pathog The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis M. Tollot D. Assmann C. Becker J. Altmüller J.Y. Dutheil C.E. Wegner R. Kahmann
01. 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