Your search returned 137 results.

Results
	81.	Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. [electronic resource] by Toone, J R Applegarth, D A Coulter-Mackie, M B James, E R Producer: 20010222 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria. [electronic resource] by Coulter-Mackie, M B Rumsby, G Applegarth, D A Toone, J R Producer: 20020108 In: Molecular genetics and metabolism vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Early amniocentesis for biochemical genetic prenatal diagnosis. [electronic resource] by Toone, J R Applegarth, D A Vallance, H D Wilson, R D Producer: 19980701 In: Lancet (London, England) vol. 351 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion. [electronic resource] by Coulter-Mackie, M B Applegarth, D A Toone, J R Gagnier, L Producer: 19990318 In: Clinical biochemistry vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Excretion of S-adenosylmethionine and S-adenosylhomocysteine in homocystinuria. [electronic resource] by Applegarth, D A Hardwick, D F Ingram, F Auckland, N L Bozoian, G Producer: 19720104 In: The New England journal of medicine vol. 285 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). [electronic resource] by Toone, J R Applegarth, D A Coulter-Mackie, M B James, E R Producer: 20010621 In: Molecular genetics and metabolism vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Metabolic studies of a family with massive formiminoglutamic aciduria. [electronic resource] by Perry, T L Applegarth, D A Evans, M E Hansen, S Jellum, E Producer: 19750620 In: Pediatric research vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	Metabolic studies of a family with massive formiminoglutamic aciduria. [electronic resource] by Perry, T L Applegarth, D A Evans, M E Hansen, S Jellum, E Producer: 19750620 In: Pediatric research vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Fluorometric determination of nanogram quantities of protein in small samples: application to calcium-transport adenosine triphosphatase. [electronic resource] by Bridges, M A McErlane, K M Kwong, E Katz, S Applegarth, D A Producer: 19860807 In: Clinica chimica acta; international journal of clinical chemistry vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. [electronic resource] by Toone, J R Applegarth, D A Coulter-Mackie, M B James, E R Producer: 20000822 In: Molecular genetics and metabolism vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	The neuronal ceroid lipofuscinoses in British Columbia: a clinical epidemiologic and ultrastructural study. [electronic resource] by MacLeod, P M Dolman, C L Chang, E Applegarth, D A Bryant, B Producer: 19761223 In: Birth defects original article series vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	92.	Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase. [electronic resource] by Applegarth, D A Donnell, G N Mullinger, M Ng, W G Lowry, A B Producer: 19761029 In: Biochemical medicine vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	An update on the frequency of mucopolysaccharide syndromes in British Columbia. [electronic resource] by Lowry, R B Applegarth, D A Toone, J R MacDonald, E Thunem, N Y Producer: 19901010 In: Human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	Pseudoarylsulfatase-A deficiency in the neurologically impaired patient. [electronic resource] by Farrell, K Applegarth, D A Toone, J R McLeod, P M Savage, A V Producer: 19851125 In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	95.	Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. [electronic resource] by MacLeod, P M Wood, S Jan, J E Applegarth, D A Dolman, C L Producer: 19770718 In: Neurology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. [electronic resource] by Valle, D Goodman, S I Applegarth, D A Shih, V E Phang, J M Producer: 19761029 In: The Journal of clinical investigation vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. [electronic resource] by Jackson, A H Applegarth, D A Toone, J R Kure, S Levy, H L Producer: 19991209 In: Journal of child neurology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis. [electronic resource] by Chitayat, D McGillivray, B C Wood, S Kalousek, D K Langlois, S Applegarth, D A Producer: 19890406 In: American journal of medical genetics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	Diagnostic pathologic investigation of the malformed conceptus. [electronic resource] by Baldwin, V J Kalousek, D K Dimmick, J E Applegarth, D A Hardwick, D F Producer: 19821202 In: Perspectives in pediatric pathology vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	100.	Use of a dried blood spot in immunoreactive-trypsin assay for detection of cystic fibrosis in infants. [electronic resource] by Kirby, L T Applegarth, D A Davidson, A G Wong, L T Hardwick, D F Producer: 19810709 In: Clinical chemistry vol. 27 Availability: No items available. Save to lists Add to cart (remove)

First
Previous
1
2
3
4
5
6
7
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 137 results.