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CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N. Weinstein M, et al. Am J Med Genet A. 2005 Jul 15;136(2):194-7. doi: 10.1002/ajmg.a.30851. Am J Med Genet A. 2005. PMID: 15945070
Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.
Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C. Greenberg CR, et al. Among authors: seargeant le. Mol Genet Metab. 2002 Jan;75(1):70-8. doi: 10.1006/mgme.2001.3270. Mol Genet Metab. 2002. PMID: 11825066
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. Greenberg CR, et al. Among authors: seargeant le. Hum Mol Genet. 1995 Mar;4(3):493-5. doi: 10.1093/hmg/4.3.493. Hum Mol Genet. 1995. PMID: 7795610 No abstract available.
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship.
Booth FA, Haworth JC, Dilling LA, Perry TL, Greenberg CR, Seargeant LE, Penn AM, Rhead WJ. Booth FA, et al. J Pediatr. 1989 Jul;115(1):81-8. doi: 10.1016/s0022-3476(89)80333-6. J Pediatr. 1989. PMID: 2738799
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein.
Björklund NK, Evans JA, Greenberg CR, Seargeant LE, Schneider CE, Chodirker BN. Björklund NK, et al. Among authors: seargeant le. Reprod Biol Endocrinol. 2004 Sep 7;2:65. doi: 10.1186/1477-7827-2-65. Reprod Biol Endocrinol. 2004. PMID: 15352998 Free PMC article.
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Carbone MA, et al. Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884. Am J Hum Genet. 1998. PMID: 9585612 Free PMC article.
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