Browse by Journal Title

2019

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong, M., Yu, Y., Liang, L., Vuralli, D., Froehler, S., Kuehnen, P., Du Bois, P., Zhang, J., Cao, A., Liu, Y., Hussain, K., Fielitz, J., Jia, S., 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., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., 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., Altmüller, J., Lyngbye, T., Christensen, R., Li, Y., Nürnberg, P., Yigit, G., Vogel, I. and Wollnik, B.
Molecular Genetics & Genomic Medicine 5 (5): 580-584. September 2017