Browse by Journal Title

2019

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong, M. and Yu, Y. and Liang, L. and Vuralli, D. and Froehler, S. and Kuehnen, P. and Du Bois, P. and Zhang, J. and Cao, A. and Liu, Y. and Hussain, K. and Fielitz, J. and Jia, S. and Chen, W. and Raile, K.
Molecular Genetics & Genomic Medicine 7 (5): e602. May 2019

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha, D. and Alakloby, O.M. and Gruber, R. and Kakar, N. and Ahmad, J. and Alawbathani, S. and Plank, R. and Eckl, K. and Krabichler, B. and Altmüller, J. and Nürnberg, P. and Zschocke, J. and Borck, G. and Schmuth, M. and Alabdulkareem, A.S. and Abdulaziz Alnutaifi, K. and Hennies, H.C.
Molecular Genetics & Genomic Medicine 7 (3): e539. March 2019

2017

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.
Moosa, S. and Altmüller, J. and Lyngbye, T. and Christensen, R. and Li, Y. and Nürnberg, P. and Yigit, G. and Vogel, I. and Wollnik, B.
Molecular Genetics & Genomic Medicine 5 (5): 580-584. September 2017