Department of Pharmacology

Yu, S., Choi, H. J., Lee, J. S., Lee, H. J., Rim, J. H., Choi, J. Y., Gee, H. Y. & Jung, J., 2019 Jan 1, In : European Journal of Medical Genetics. 62, 1, p. 81-84 4 p.

Research output: Contribution to journal › Article

Hearing Loss

Mutation

Exome

Genes

Alleles

1 Citation (Scopus)

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators

Shin, D. H., Jung, J., Koh, Y. I., Rim, J. H., Lee, J. S., Choi, H. J., Joo, S. Y., Yu, S., Cha, D. H., Lee, S. Y., Lee, J. H., Lee, M. G., Choi, J. Y. & Gee, H. Y., 2019 Mar 1, In : Human mutation. 40, 3, p. 335-346 12 p.

Research output: Contribution to journal › Article

Mutation

Mutant Proteins

Voltage-Gated Potassium Channels

Exome

Missense Mutation

2 Citations (Scopus)

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Amar, A., Majmundar, A. J., Ullah, I., Afzal, A., Braun, D. A., Shril, S., Daga, A., Jobst-Schwan, T., Ahmad, M., Sayer, J. A., Gee, H. Y., Halbritter, J., Knöpfel, T., Hernando, N., Werner, A., Wagner, C., Khaliq, S. & Hildebrandt, F., 2019 Jan 1, In : Human Genetics.

Research output: Contribution to journal › Article

Nephrolithiasis

Mutation

Genes

Pakistan

Recessive Genes