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December 20, 2013 / Hum Mol Genet A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D. Wieczorek N. Bögershausen F. Beleggia S. Steiner-Haldenstätt E. Pohl Y. Li E. Milz M. Martin H. Thiele J. Altmüller Y. Alanay H. Kayserili L. Klein-Hitpass S. Böhringer A. Wollstein B. Albrecht K. Boduroglu A. Caliebe K. Chrzanowska O. Cogulu F. Cristofoli J.C. Czeschik K. Devriendt M.T. Dotti N. Elcioglu B. Gener T.O. Goecke M. Krajewska-Walasek E. Guillén-Navarro J. Hayek G. Houge E. Kilic P.Ö. Simsek-Kiper V. López-González A. Kuechler S. Lyonnet F. Mari A. Marozza M. Mathieu Dramard B. Mikat G. Morin F. Morice-Picard F. Ozkinay A. Rauch A. Renieri S. Tinschert G.E. Utine C. Vilain R. Vivarelli C. Zweier P. Nürnberg S. Rahmann J. Vermeesch H.J. Lüdecke M. Zeschnigk B. Wollnik
December 01, 2013 / Theor Appl Genet Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.) J. Acevedo-Garcia N.C. Collins N. Ahmadinejad L. Ma A. Houben P. Bednarek M. Benjdia A. Freialdenhoven J. Altmüller P. Nürnberg R. Reinhardt P. Schulze-Lefert R. Panstruga
December 20, 2013 / Hum Mol Genet CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly M.S. Hussain S.M. Baig S. Neumann V.S. Peche S. Szczepanski G. Nürnberg M. Tariq M. Jameel T.N. Khan A. Fatima N.A. Malik I. Ahmad J. Altmüller P. Frommolt H. Thiele W. Höhne G. Yigit B. Wollnik B.A. Neubauer P. Nürnberg A.A. Noegel
December 27, 2013 / BMC Genomics The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda P.H. Schiffer M. Kroiher C. Kraus G.D. Koutsovoulos S. Kumar J.I.R. Camps N.A. Nsah D. Stappert K. Morris P. Heger J. Altmüller P. Frommolt P. Nürnberg W.K. Thomas M.L. Blaxter E. Schierenberg
January 02, 2014 / Am J Hum Genet Mutations in POGLUT1, encoding protein o-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease F.B. Basmanav A.M. Oprisoreanu S.M. Pasternack H. Thiele G. Fritz J. Wenzel L. Größer M. Wehner S. Wolf C. Fagerberg A. Bygum J. Altmüller A. Rütten L. Parmentier L. El Shabrawi-Caelen C. Hafner P. Nürnberg R. Kruse S. Schoch S. Hanneken R.C. Betz
July 01, 2014 / Theranostics Luminescent dual sensors reveal extracellular pH-gradients and hypoxia on chronic wounds that disrupt epidermal repair S. Schreml R.J. Meier M. Kirschbaum S.C. Kong S. Gehmert O. Felthaus S. Küchler J.R. Sharpe K. Wöltje K.T. Weiß M. Albert U. Seidl J. Schröder C. Morsczeck L. Prantl C. Duschl S.F. Pedersen M. Gosau M. Berneburg O.S. Wolfbeis M. Landthaler P. Babilas
July 01, 2024 / Hypertension Angiotensin-(1-12): does it exist? A critical evaluation in humans, rats, and mice A.F. Rodrigues O. Domenig M. Poglitsch M. Bader A.H.J. Danser
May 01, 2024 / Cancers L-glyceraldehyde inhibits neuroblastoma cell growth via a multi-modal mechanism on metabolism and Signaling M. Forbes R. Kempa G. Mastrobuoni L. Rayman M. Pietzke S. Bayram B. Arlt A. Spruessel H.E. Deubzer S. Kempa