Department of Pharmacology

Fingerprint Dive into the research topics where Department of Pharmacology is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Mutation Medicine & Life Sciences
Nephrotic Syndrome Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Podocytes Medicine & Life Sciences
Cystic Fibrosis Transmembrane Conductance Regulator Medicine & Life Sciences
Steroids Medicine & Life Sciences
Kidney Medicine & Life Sciences

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Profiles

Research Output 2009 2019

1 Citation (Scopus)

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction

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 journalArticle

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 journalArticle

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 journalArticle

Nephrolithiasis
Mutation
Genes
Pakistan
Recessive Genes