Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
1998 | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic | Veiga-da-Cunha, M.; Gerin, I.; Chen, Y. T.; de Barsy, T.; de Lonlay, P.; Dionisi-Vici, C.; Fenske, C. D.; Lee, P. J.; Leonard, J. V.; Maire, I.; McConkie-Rosell, A.; Schweitzer, S.; Vikkula, M.; Van Schaftingen, E. | Am J Hum Genet 63, 976-983 | | | |
1996 | Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease | McConkie-Rosell, A.; Wilson, C.; Piccoli, D. A.; Boyle, J.; DeClue, T.; Kishnani, P.; Shen, J. J.; Boney, A.; Brown, B.; Chen, Y. T. | J Inherit Metab Dis 19, 51-58 | | | |
1995 | Glycogen storage disease type Ia in two littermate Maltese puppies | Brix, A. E.; Howerth, E. W.; McConkie-Rosell, A.; Peterson, D.; Egnor, D.; Wells, M. R.; Chen, Y. T. | Vet Pathol 32, 460-465 | | | |
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 | | | |
1998 | Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers | Shen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T. | Prenat Diagn 18, 61-64 | | | |
1999 | Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis | Shen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T. | Prenat Diagn 19, 837-839 | | | |
1992 | Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate | Park, H. K.; Kay, H. H.; McConkie-Rosell, A.; Lanman, J.; Chen, Y. T. | Prenat Diagn 12, 169-173 | | | |
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 | | | |
1991 | VATER and hydrocephalus: distinct syndrome? | Iafolla, A. K.; McConkie-Rosell, A.; Chen, Y. T. | Am J Med Genet 38, 46-51 | | | |