Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
---|---|---|---|---|---|---|
2001 | Hepatic storage of glycogen in Niemann-Pick disease type B | Smith, W. E.; Kahler, S. G.; Frush, D. P.; Milov, D. E.; Gottfried, M. R.; Chen, Y. T. | J Pediatr 138, 946-948 | |||
1992 | Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency | Iafolla, A. K.; Kahler, S. G.; Chen, Y. T. | J Pediatr 120, 496-497 | |||
1993 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood | Van Hove, J. L.; Zhang, W.; Kahler, S. G.; Roe, C. R.; Chen, Y. T.; Terada, N.; Chace, D. H.; Iafolla, A. K.; Ding, J. H.; Millington, D. S. | Am J Hum Genet 52, 958-966 | |||
1989 | Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype | McConkie-Rosell, A.; Chen, Y. T.; Harris, D.; Speer, M. C.; Pericak-Vance, M. A.; Ding, J. H.; Highsmith, W. E.; Knowles, M.; Kahler, S. G. | Ann Intern Med 111, 797-801 | |||
1992 | Unbalanced translocation 46,XY,-15,+der(22)t(1522)(q13q11)pat: case report and review of the literature | Van Hove, J. L.; McConkie-Rosell, A.; Chen, Y. T.; Iafolla, A. K.; Lanman Jr., J. T.; Hennessy, M. D.; Kahler, S. G. | Am J Med Genet 44, 24-30 |