Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
van Kuilenburg, André B P, Dobritzsch, Doreen, Meinsma, Rutger, Haasjes, Janet, Waterham, Hans R, Nowaczyk, Malgorzata J M, Maropoulos, George D, Hein, Guido, Kalhoff, Hermann, Kirk, Jean M, Baaske, Holger, Aukett, Anne, Duley, John A, Ward, Kate P, Lindqvist, Ylva, van Gennip, Albert H
Published in Biochemical journal (15.05.2002)
Published in Biochemical journal (15.05.2002)
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Journal Article
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings
Kamath Tallur, K, Johnson, David A, Kirk, Jean M, Sandercock, Peter AG, Minns, Robert A
Published in Developmental medicine and child neurology (01.01.2005)
Published in Developmental medicine and child neurology (01.01.2005)
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Journal Article
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease
Lohse, P, Maas, S, Lohse, P, Elleder, M, Kirk, J M, Besley, G T, Seidel, D
Published in Journal of lipid research (01.01.2000)
Published in Journal of lipid research (01.01.2000)
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Journal Article
The Importance of Long-term Acute Care Hospitals in the Regional Epidemiology of Klebsiella pneumoniae Carbapenemase–Producing Enterobacteriaceae
Lin, Michael Y., Lyles-Banks, Rosie D., Lolans, Karen, Hines, David W., Spear, Joel B., Petrak, Russell, Trick, William E., Weinstein, Robert A., Hayden, Mary K.
Published in Clinical infectious diseases (01.11.2013)
Published in Clinical infectious diseases (01.11.2013)
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Journal Article
Folate‐induced reversal of leukoencephalopathy and intellectual decline in methylene‐tetrahydrofolate reductase deficiency: variable response in siblings
Tallur, K Kamath, Johnson, David A, Kirk, Jean M, Sandercock, Peter AG, Minns, Robert A
Published in Developmental medicine and child neurology (01.01.2005)
Published in Developmental medicine and child neurology (01.01.2005)
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Journal Article
Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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ORIGINAL ARTICLE: Sweat testing for cystic fibrosis: A review of New Zealand laboratories
Mackay, Richard, George, Peter, Kirk, Jean
Published in Journal of paediatrics and child health (01.04.2006)
Published in Journal of paediatrics and child health (01.04.2006)
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Sweat testing for cystic fibrosis: A review of New Zealand laboratories
Mackay, Richard, George, Peter, Kirk, Jean
Published in Journal of paediatrics and child health (01.04.2006)
Published in Journal of paediatrics and child health (01.04.2006)
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Journal Article
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylenetetrahydrofolate reductase deficiency: variable response in siblings
K Kamath Tallur, Johnson, David A, Kirk, Jean M, Sandercock, Peter A G, Minns, Robert A
Published in Developmental medicine and child neurology (01.01.2005)
Published in Developmental medicine and child neurology (01.01.2005)
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Journal Article
The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
Andresen, Brage Storstein, Bross, Peter, Udvari, Szabolcs, Kirk, Jean, Gray, George, Kmoch, Stanislav, Chamoles, Nestor, Knudsen, Inga, Winter, Vibeke, Wilcken, Bridget, Yokota, Ichiro, Hart, Kimberly, Packman, Seymour, Harpey, Jean Paul, Saudubray, Jean Marie, Hale, Daniel E., Bolund, Lars, Kølvraa, Steen, Gregersen, Niels
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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Journal Article
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II
HÜHN, R, STOERMER, H, SCHERER, G, KLINGELE, B, BAUSCH, E, FOIS, A, FARNETANI, M, DI ROCCO, M, BOUE, J, KIRK, J. M, COLEMAN, R
Published in Human genetics (01.03.1998)
Published in Human genetics (01.03.1998)
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Journal Article
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population
Gilfillan, A, Warner, J P, Kirk, J M, Marshall, T, Greening, A, Ho, L P, Hargreave, T, Stack, B, McIntyre, D, Davidson, R, Dean, J C, Middleton, W, Brock, D J
Published in Journal of medical genetics (01.02.1998)
Published in Journal of medical genetics (01.02.1998)
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Journal Article
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII
Hühn, Regina, Stoermer, Heike, Klingele, Beate, Bausch, Elke, Fois, Alberto, Farnetani, Mariangela, Di Rocco, Maja, Boué, Joelle, Kirk, Jean M., Coleman, Rosalind, Scherer, G.
Published in Human genetics (1998)
Published in Human genetics (1998)
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Journal Article
Use of alternative treatments for emotional dysphoria by individuals with physically disabling conditions
Krauss, H H, Godfrey, C, Kirk, J, Eisenberg, D M
Published in Perceptual and motor skills (01.12.1997)
Published in Perceptual and motor skills (01.12.1997)
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