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Journal Abstract Search

102 related items for PubMed ID: 2067874

  • 1. [Hirschsprung-Galant infantilism].
    Fehlow P, Walther F.
    Padiatr Grenzgeb; 1991; 30(3):245-52. PubMed ID: 2067874
    [Abstract] [Full Text] [Related]

  • 2. [Primary hypogonadism associated with neuropsychiatric disorders].
    Fehlow P, Walther F.
    Arztl Jugendkd; 1991; 82(2):93-102. PubMed ID: 1759640
    [Abstract] [Full Text] [Related]

  • 3. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.
    Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA.
    Genet Couns; 1994; 5(1):11-4. PubMed ID: 8031530
    [Abstract] [Full Text] [Related]

  • 4. [Robin-Silverman-Smith (fetal face) syndrome].
    Fehlow P, Walther F, Pfeifer T, Schuchard UM.
    Klin Padiatr; 1995; 207(6):354-5. PubMed ID: 8569140
    [Abstract] [Full Text] [Related]

  • 5. [Adult Hirschsprung's disease with mental retardation and microcephaly].
    Baranyay F, Bogár G, Sebestyén M.
    Orv Hetil; 2000 Jul 23; 141(30):1673-6. PubMed ID: 10962905
    [Abstract] [Full Text] [Related]

  • 6. Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.
    Işlek I, Küçüködük S, Erkan D, Bernay F, Kalayci AG, Görk S, Kandemir B, Gürses N.
    Clin Dysmorphol; 1996 Jul 23; 5(3):271-3. PubMed ID: 8818459
    [No Abstract] [Full Text] [Related]

  • 7. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
    Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA.
    Am J Med Genet; 1994 May 01; 50(4):368-74. PubMed ID: 8209918
    [Abstract] [Full Text] [Related]

  • 8. Smith-Lemli-Opitz syndrome: the changing phenotype with age.
    de Die-Smulders C, Fryns JP.
    Genet Couns; 1992 May 01; 3(2):77-82. PubMed ID: 1642814
    [Abstract] [Full Text] [Related]

  • 9. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
    Halal F, Morel J.
    Am J Med Genet; 1990 Sep 01; 37(1):106-8. PubMed ID: 2240026
    [Abstract] [Full Text] [Related]

  • 10. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.
    Lowry RB, Yong SL.
    Am J Med Genet; 1980 Sep 01; 5(2):137-43. PubMed ID: 7395908
    [Abstract] [Full Text] [Related]

  • 11. Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome.
    Cherian MP, Al-Sanna'a NA, Al-Mulhim SI.
    J Pediatr Surg; 2008 Jun 01; 43(6):1213-7. PubMed ID: 18558212
    [Abstract] [Full Text] [Related]

  • 12. Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.
    Chudley AE, Rozdilsky B, Houston CS, Becker LE, Knoll JH.
    Am J Med Genet; 1985 Jan 01; 20(1):145-58. PubMed ID: 3970066
    [Abstract] [Full Text] [Related]

  • 13. Juberg-Marsidi syndrome: report of an additional case.
    Tsukahara M, Nasu T, Takihara H, Hattori Y, Nakane H, Kamata K, Mitsui H, Hayashida S.
    Am J Med Genet; 1995 Sep 25; 58(4):353-5. PubMed ID: 8533845
    [Abstract] [Full Text] [Related]

  • 14. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.
    Fryns JP, Vogels A, Haegeman J, Eggermont E, van den Berghe H.
    Genet Couns; 1994 Sep 25; 5(4):337-43. PubMed ID: 7888135
    [Abstract] [Full Text] [Related]

  • 15. [Sohval-Soffer syndrome].
    Kanno J, Matsubara Y.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():492-3. PubMed ID: 17022595
    [No Abstract] [Full Text] [Related]

  • 16. [Differential diagnosis of mentally retarded children--report of 2 cases on the Smith-Lemli-Opitz syndrome].
    Kofer J.
    Cesk Pediatr; 1976 Aug 28; 31(8):465-6. PubMed ID: 975364
    [No Abstract] [Full Text] [Related]

  • 17. Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association.
    Sinha CK, Grewal A, Ward HC.
    J Pediatr Surg; 2007 Aug 28; 42(8):1454-6. PubMed ID: 17706516
    [Abstract] [Full Text] [Related]

  • 18. [Börjeson-Forssman-Lehmann syndrome].
    Kubota T.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():410-2. PubMed ID: 17022575
    [No Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 20. Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?
    Pfeiffer RA, Kapferer L, Tietze HU.
    Genet Couns; 1996 Sep 28; 7(3):213-7. PubMed ID: 8897043
    [Abstract] [Full Text] [Related]

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