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April 09, 2024 / Eur J Pharmacol Role of kinin receptors in skin pigmentation J.C.P. Ferreira B.S. Soley P.L. Pawloski C.G. Moreira J.B. Pesquero M. Bader J.B. Calixto D.A. Cabrini M.F. Otuki
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
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March 20, 2024 / J Diabetes Res Insulin secretion defect in children and adolescents with obesity: clinical and molecular genetic characterization H. Enders-Seidlitz K. Raile M. Gong A. Galler P. Kuehnen S. Wiegand
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October 01, 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
November 01, 2014 / Nat Genet Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D. Lessel B. Vaz S. Halder P.J. Lockhart I. Marinovic-Terzic J. Lopez-Mosqueda M. Philipp J.C.H. Sim K.R. Smith J. Oehler E. Cabrera R. Freire K. Pope A. Nahid F. Norris R.J. Leventer M. Delatycki G. Barbi S. von Ameln J. Högel M. Degoricija R. Fertig M.D. Burkhalter K. Hofmann H. Thiele J. Altmüller G. Nürnberg P. Nürnberg M. Bahlo G.M. Martin C.M. Aalfs J. Oshima J. Terzic D.J. Amor I. Dikic K. Ramadan C. Kubisch
