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Browsing by Author McConkie-Rosell, A.


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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
1998A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcVeiga-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
1996Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage diseaseMcConkie-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
1995Glycogen storage disease type Ia in two littermate Maltese puppiesBrix, A. E.; Howerth, E. W.; McConkie-Rosell, A.; Peterson, D.; Egnor, D.; Wells, M. R.; Chen, Y. T.Vet Pathol 32, 460-465
1989Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotypeMcConkie-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
1998Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markersShen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T.Prenat Diagn 18, 61-64
1999Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysisShen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T.Prenat Diagn 19, 837-839
1992Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substratePark, H. K.; Kay, H. H.; McConkie-Rosell, A.; Lanman, J.; Chen, Y. T.Prenat Diagn 12, 169-173
1992Unbalanced translocation 46,XY,-15,+der(22)t(1522)(q13q11)pat: case report and review of the literatureVan 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
1991VATER and hydrocephalus: distinct syndrome?Iafolla, A. K.; McConkie-Rosell, A.; Chen, Y. T.Am J Med Genet 38, 46-51
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