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
This list was generated on Fri Aug 16 06:52:16 2024 UTC.