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Journal Abstract Search

145 related items for PubMed ID: 7967168

  • 1. [An autopsy case of Smith-Lemli-Opitz syndrome].
    Nagao M, Iwadate K, Zhang WD, Takahashi H, Yamada Y, Suzuki H, Takatori T.
    Nihon Hoigaku Zasshi; 1994 Aug; 48(4):274-8. PubMed ID: 7967168
    [Abstract] [Full Text] [Related]

  • 2. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.
    Rakheja D, Wilson GN, Rogers BB.
    Pediatr Dev Pathol; 2003 Aug; 6(3):270-7. PubMed ID: 12717589
    [Abstract] [Full Text] [Related]

  • 3. [A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].
    Nakamura K, Yoshimasu H, Komuro C, Kobayashi A, Moon K, Sato M, Yamashiro M, Arai N, Shioiri S, Amagasa T.
    Kokubyo Gakkai Zasshi; 1991 Dec; 58(4):718-24. PubMed ID: 1795140
    [Abstract] [Full Text] [Related]

  • 4. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
    Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S.
    Am J Med Genet; 1987 Jan; 26(1):45-57. PubMed ID: 3812577
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant blepharophimosis with multiple congenital anomalies.
    Krieble BF, Bixler D.
    J Clin Dysmorphol; 1984 Jan; 2(1):24-9. PubMed ID: 6587013
    [No Abstract] [Full Text] [Related]

  • 6. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.
    Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH.
    Am J Med Genet; 1987 Jan; 26(1):59-64. PubMed ID: 3812578
    [Abstract] [Full Text] [Related]

  • 7. [Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity].
    Nikonovich IuB, Kaurov BA, Lur'e IV.
    Tsitol Genet; 1987 Jan; 21(1):57-60. PubMed ID: 3564150
    [Abstract] [Full Text] [Related]

  • 8. Limb deficiency in an infant with Smith-Lemli-Opitz syndrome.
    Singer LP, Marion RW, Li JK.
    Am J Med Genet; 1989 Mar; 32(3):380-3. PubMed ID: 2729358
    [Abstract] [Full Text] [Related]

  • 9. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis.
    Angle B, Tint GS, Yacoub OA, Clark AL.
    Am J Med Genet; 1998 Dec 04; 80(4):322-6. PubMed ID: 9856557
    [Abstract] [Full Text] [Related]

  • 10. Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.
    Bardelli AM, Lasorella G, Barberi L, Vanni M.
    Ophthalmic Paediatr Genet; 1985 Aug 04; 6(1-2):343-7. PubMed ID: 3934624
    [Abstract] [Full Text] [Related]

  • 11. [Case of Smith-Lemli-Opitz syndrome with atrial heart septal defect].
    Nishio M, Murata M, Kusakawa S.
    Nihon Shonika Gakkai Zasshi; 1970 Jul 01; 74(7):675-81. PubMed ID: 5466403
    [No Abstract] [Full Text] [Related]

  • 12. [Genetic morphological fatal syndrome. Smith-Lemli-Opitz syndrome].
    Henkel KE, Pfeiffer RA, Stöss H.
    Pathologe; 1993 Mar 01; 14(2):91-2. PubMed ID: 8469651
    [No Abstract] [Full Text] [Related]

  • 13. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
    Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA.
    Ned Tijdschr Geneeskd; 1996 Jul 13; 140(28):1463-6. PubMed ID: 8766772
    [Abstract] [Full Text] [Related]

  • 14. Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.
    Lowry RB.
    Am J Med Genet; 1983 Mar 13; 14(3):429-33. PubMed ID: 6859094
    [No Abstract] [Full Text] [Related]

  • 15. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
    Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M.
    Genet Couns; 2007 Mar 13; 18(2):247-50. PubMed ID: 17710878
    [Abstract] [Full Text] [Related]

  • 16. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
    Alkuraya FS, Picker J, Irons MB, Kimonis VE.
    Birth Defects Res A Clin Mol Teratol; 2005 Aug 13; 73(8):569-71. PubMed ID: 15965973
    [Abstract] [Full Text] [Related]

  • 17. Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.
    Parnes S, Hunter AG, Jimenez C, Carpenter BF, MacDonald I.
    Am J Med Genet; 1990 Mar 13; 35(3):397-405. PubMed ID: 2309789
    [Abstract] [Full Text] [Related]

  • 18. One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
    Krajewska-Walasek M.
    Genet Couns; 1991 Mar 13; 2(4):221-5. PubMed ID: 1799420
    [Abstract] [Full Text] [Related]

  • 19. Herrmann-Opitz syndrome: report of an affected fetus.
    Anyane-Yeboa K, Kasznica J, Malin J, Maidman J.
    Am J Med Genet; 1987 Jun 13; 27(2):467-70. PubMed ID: 3300335
    [Abstract] [Full Text] [Related]

  • 20. Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report.
    Antoniades K, Peonidis A, Pehlivanidis C, Kavadia S, Panagiotidis P.
    Int J Oral Maxillofac Surg; 1994 Dec 13; 23(6 Pt 1):363-5. PubMed ID: 7699276
    [Abstract] [Full Text] [Related]

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