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Journal Abstract Search

138 related items for PubMed ID: 2456982

  • 21. Carrier detection in severe (type III) von Willebrand disease using two intragenic restriction fragment length polymorphisms.
    Bahnak BR, Lavergne JM, Verweij CL, Rothschild C, Pannekoek H, Larrieu MJ, Meyer D.
    Thromb Haemost; 1988 Oct 31; 60(2):178-81. PubMed ID: 2905841
    [Abstract] [Full Text] [Related]

  • 22. Enzyme defect in a case of tyrosinemia type I, acute form.
    Furukawa N, Kinugasa A, Seo T, Ishii T, Ota T, Machida Y, Inoue F, Imashuku S, Kusunoki T, Takamatsu T.
    Pediatr Res; 1984 May 31; 18(5):463-6. PubMed ID: 6145143
    [Abstract] [Full Text] [Related]

  • 23. A new MspIPCR-RFLP in the human LDL receptor gene.
    Chae JJ, Kim SH, Hong SS, Namkoong Y, Park YB, Lee CC.
    Hum Hered; 1996 May 31; 46(6):339-41. PubMed ID: 8956031
    [Abstract] [Full Text] [Related]

  • 24. Structure of the human CR1 gene. Molecular basis of the structural and quantitative polymorphisms and identification of a new CR1-like allele.
    Wong WW, Cahill JM, Rosen MD, Kennedy CA, Bonaccio ET, Morris MJ, Wilson JG, Klickstein LB, Fearon DT.
    J Exp Med; 1989 Mar 01; 169(3):847-63. PubMed ID: 2564414
    [Abstract] [Full Text] [Related]

  • 25. Identification and characterization of 23 RFLP loci by screening random cosmid genomic clones.
    Bowden DW, Müller-Kahle H, Gravius TC, Helms C, Watt-Morgan D, Green P, Donis-Keller H.
    Am J Hum Genet; 1989 May 01; 44(5):671-8. PubMed ID: 2565079
    [Abstract] [Full Text] [Related]

  • 26. BstEII restriction fragment alleles and haplotypes of the human IGHG genes with reference to the BamHI/SacI RFLPs and to the Gm polymorphism.
    Ghanem N, Dugoujon JM, Lefranc MP, Lefranc G.
    Exp Clin Immunogenet; 1989 May 01; 6(1):39-54. PubMed ID: 2576520
    [Abstract] [Full Text] [Related]

  • 27. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
    Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.
    Hum Genet; 1991 Dec 01; 88(2):153-6. PubMed ID: 1721894
    [Abstract] [Full Text] [Related]

  • 28. C6 haplotypes: associations of a Dde I site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP).
    Fernie BA, Hobart MJ, Delbridge G, Potter PC, Orren A, Lachmann PJ.
    Clin Exp Immunol; 1994 Feb 01; 95(2):351-6. PubMed ID: 7508350
    [Abstract] [Full Text] [Related]

  • 29. DNA variation in the genes of the Na,K-adenosine triphosphatase and its relation with resting metabolic rate, respiratory quotient, and body fat.
    Dériaz O, Dionne F, Pérusse L, Tremblay A, Vohl MC, Côté G, Bouchard C.
    J Clin Invest; 1994 Feb 01; 93(2):838-43. PubMed ID: 7509349
    [Abstract] [Full Text] [Related]

  • 30. Heterozygosity and localisation of normal allelic fragments for an alpha 1-antitrypsin homologous sequence.
    Kalsheker NA, Watkins GL.
    Hum Genet; 1988 Sep 01; 80(1):108-9. PubMed ID: 2901394
    [Abstract] [Full Text] [Related]

  • 31. Application of two neutral MspI DNA polymorphisms in the analysis of hereditary protein C deficiency.
    Reitsma PH, te Lintel Hekkert W, Koenhen E, van der Velden PA, Allaart CF, Deutz-Terlouw PP, Poort SR, Bertina RM.
    Thromb Haemost; 1990 Oct 22; 64(2):239-44. PubMed ID: 1702905
    [Abstract] [Full Text] [Related]

  • 32. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
    DiLella AG, Marvit J, Brayton K, Woo SL.
    Nature; 1990 Oct 22; 327(6120):333-6. PubMed ID: 2884570
    [Abstract] [Full Text] [Related]

  • 33. The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization.
    Barton DE, Yang-Feng TL, Francke U.
    Hum Genet; 1986 Mar 22; 72(3):221-4. PubMed ID: 2870017
    [Abstract] [Full Text] [Related]

  • 34. Haplotype frequencies of the collagen type-I genes in the Italian population.
    Mottes M, Cugola L, Pignatti PF.
    Hum Genet; 1989 Nov 22; 83(4):369-72. PubMed ID: 2572536
    [Abstract] [Full Text] [Related]

  • 35. Hepatic enzymes of tyrosine metabolism in tyrosinemia II.
    Goldsmith LA, Thorpe J, Roe CR.
    J Invest Dermatol; 1979 Dec 22; 73(6):530-2. PubMed ID: 41876
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  • 37. Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
    Gokay S, Kendirci M, Ustkoyuncu PS, Kardas F, Bayram AK, Per H, Poyrazoğlu HG.
    Pediatr Int; 2016 Oct 22; 58(10):1069-1072. PubMed ID: 27285949
    [Abstract] [Full Text] [Related]

  • 38. TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.
    Yamakawa K, Okafuji T, Iwamura Y, Yuzawa K, Satoh J, Hattori N, Yamanouchi Y, Yanagi H, Kawai K, Tsuchiya S.
    Hum Genet; 1988 Sep 22; 80(1):1-5. PubMed ID: 2901393
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