• 645 Citations
  • 15 h-Index
20072019
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Fingerprint Dive into the research topics where Jung Min Ko is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Exons Medicine & Life Sciences
Exome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Korea Medicine & Life Sciences
Fabry Disease Medicine & Life Sciences
Hyperammonemia Medicine & Life Sciences

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Research Output 2007 2019

Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis

Sohn, Y. B., Ko, J. M., Jang, J. Y., Seong, M-W., Park, S. S., Suh, D. I., Ko, J. S. & Shin, C. H., 1 Aug 2019, In : European Journal of Medical Genetics. 62, 8, 103681.

Research output: Contribution to journalArticleResearchpeer-review

Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
Exons
Early Diagnosis
Alleles

Hyperammonemia in a case of herpes simplex and anti-N-methyl-D-aspartate receptor encephalitis

Ko, J. M., Kim, W. J., Kim, S. Y., Lee, J. H., Chae, J. H., Kim, K. & Lim, B. C., 1 Aug 2019, In : Brain and Development. 41, 7, p. 634-637 4 p.

Research output: Contribution to journalArticleResearchpeer-review

Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Herpes Simplex Encephalitis
Hyperammonemia
Herpes Simplex
Metabolic Diseases

Novel and private eda mutations and clinical phenotypes of Korean patients with x-linked hypohidrotic ectodermal dysplasia

Park, J. S., Ko, J. M. & Chae, J. H., 1 Jul 2019, In : Cytogenetic and Genome Research. 158, 1, p. 1-9 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Anhidrotic Ectodermal Dysplasia 1
Phenotype
Mutation
Hypotrichosis
Anodontia

The Korean undiagnosed diseases program: Lessons from a one-year pilot project

Kim, S. Y., Lim, B. C., Lee, J. S., Kim, W. J., Kim, H., Ko, J. M., Kim, K., Choi, S. A., Kim, H., Hwang, H., Choi, J., Cho, A., Moon, J., Seong, M-W., Park, S. S., Lee, Y. J., Kim, Y. O., Kim, J. S., Kim, W. S., Kwon, Y. S. & 7 others, Park, J. D., Ahn, Y., Hwang, J. Y., Park, H. Y., Lee, Y., Choi, M. & Chae, J. H., 20 Mar 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 68.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
Rare Diseases
Workflow
Molecular Biology
Exome
Process Assessment (Health Care)

Two korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Heo, Y. J., Ko, J. M., Lee, Y. A., Shin, C. H., Yang, S., Kim, M. J. & Park, S. S., 1 Dec 2018, In : Annals of Pediatric Endocrinology and Metabolism. 23, 4, p. 220-225 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
Androgen-Insensitivity Syndrome
Androgen Receptors
Mutation
Phenotype
Karyotype