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Journal Abstract Search

144 related items for PubMed ID: 2731793

  • 1.
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  • 2. [DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis].
    Trefz FK, Lichter-Konecki U, Krawczak M, Schmidtke J, Dueck M, Nützenadel W, Konecki DS.
    Monatsschr Kinderheilkd; 1989 Apr; 137(4):201-7. PubMed ID: 2659975
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  • 5. Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis.
    Oh BH, Park JK, Choi YM, Yang IM, Kim YS, Choi YK.
    J Korean Med Sci; 1988 Jun; 3(2):73-7. PubMed ID: 3267357
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  • 6. Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
    Fang B, Yuan L, Wang M, Huang S, Wang T, Miao S, Ye J, Sun N, Lo H, Savio LC.
    Chin Med Sci J; 1992 Dec; 7(4):205-8. PubMed ID: 1307495
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  • 8. Prenatal diagnosis of cystic fibrosis in a Turkish family.
    Yilmaz E, Ozgüç M, Coşkun T, Beksaç S, Cakar N, Ayter S, Ozalp I.
    Turk J Pediatr; 1991 Dec; 33(2):79-84. PubMed ID: 1844185
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  • 10. [Strategies in prenatal diagnosis of cystic fibrosis after the introduction of DNA analysis. Initial experience].
    Sedlácek Z, Macek M, Hronková J, Tomásová H, Chudoba D, Vávrová V.
    Cas Lek Cesk; 1990 Jun 01; 129(22):683-8. PubMed ID: 1973632
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  • 13. Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
    Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W.
    Am J Hum Genet; 2017 Sep 07; 101(3):326-339. PubMed ID: 28844486
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  • 15. [Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
    Wang M.
    Zhonghua Yi Xue Za Zhi; 1992 Nov 07; 72(11):670-3, 702-3. PubMed ID: 1338705
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  • 16. [Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency].
    Dörr HG, Sippell WG, Willig RP.
    Geburtshilfe Frauenheilkd; 1992 Oct 07; 52(10):586-8. PubMed ID: 1294431
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  • 17. A multiplex ARMS test for 10 cystic fibrosis (CF) mutations: evaluation in a prenatal CF screening program.
    Bradley LA, Johnson DA, Chaparro CA, Robertson NH, Ferrie RM.
    Genet Test; 1998 Oct 07; 2(4):337-41. PubMed ID: 10464613
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  • 19. Prenatal diagnosis of classic phenylketonuria by DNA analysis.
    Lidsky AS, Güttler F, Woo SL.
    Lancet; 1985 Mar 09; 1(8428):549-51. PubMed ID: 2857902
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