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Journal Abstract Search

135 related items for PubMed ID: 8281272

  • 21. Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.
    Fryns JP, Delooz J, van den Berghe H.
    Clin Genet; 1992 Dec; 42(6):314-6. PubMed ID: 1493644
    [Abstract] [Full Text] [Related]

  • 22. Cleft palate lateral synechia syndrome without the lateral synechia (CP plus or minus LS syndrome).
    Preus M, Fraser FC, Fuhrmann W.
    Teratology; 1974 Apr; 9(2):135-41. PubMed ID: 4824743
    [No Abstract] [Full Text] [Related]

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

  • 24. Report of two cases with Van der Woude syndrome: a child and her mother.
    Koçer U, Aksoy HM, Tiftikcioğlu YO, Cöloğlu H, Karaaslan O.
    Genet Couns; 2001 Apr; 12(4):341-6. PubMed ID: 11837602
    [Abstract] [Full Text] [Related]

  • 25. Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome.
    Schilbach U, Rott HD.
    Am J Med Genet; 1988 Dec; 31(4):863-70. PubMed ID: 3149147
    [Abstract] [Full Text] [Related]

  • 26. [The G syndrome: description of a case/and familial studies].
    Calandi C, Adami-Lami Conti C, Mannini A, Fantacci C, Nistri R, Giovannucci ML.
    Arch De Vecchi Anat Patol; 1980 Dec; 64(1):59-73. PubMed ID: 7027970
    [No Abstract] [Full Text] [Related]

  • 27. Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
    Fryer AE.
    Clin Dysmorphol; 1998 Apr; 7(2):97-101. PubMed ID: 9571278
    [Abstract] [Full Text] [Related]

  • 28. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
    Riegel M, Schinzel A.
    Am J Med Genet; 2002 Jul 22; 111(1):76-80. PubMed ID: 12124740
    [Abstract] [Full Text] [Related]

  • 29. Rapp-Hodgkin syndrome with pili canaliculi.
    Camacho F, Ferrando J, Pichardo AR, Sotillo I, Jorquera E.
    Pediatr Dermatol; 1993 Mar 22; 10(1):54-7. PubMed ID: 8493170
    [Abstract] [Full Text] [Related]

  • 30. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
    Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S.
    Clin Exp Dermatol; 2005 May 22; 30(3):282-5. PubMed ID: 15807690
    [Abstract] [Full Text] [Related]

  • 31. Phenotypic variability in van der Woude syndrome.
    Lacombe D, Pedespan JM, Fontan D, Chateil JF, Verloes A.
    Genet Couns; 1995 May 22; 6(3):221-6. PubMed ID: 8588850
    [Abstract] [Full Text] [Related]

  • 32. Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon: a specific disorder?
    Kumasaka K, Clarren SK.
    Am J Med Genet; 1988 Oct 22; 31(2):465-6. PubMed ID: 3232708
    [No Abstract] [Full Text] [Related]

  • 33. The Aarskog (facio-digito-genital) syndrome.
    Hoo JJ.
    Clin Genet; 1979 Oct 22; 16(4):269-76. PubMed ID: 519896
    [Abstract] [Full Text] [Related]

  • 34. A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.
    Abruzzo MA, Erickson RP.
    J Med Genet; 1977 Feb 22; 14(1):76-80. PubMed ID: 839509
    [Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
    Hsieh EW, Vargervik K, Slavotinek AM.
    Am J Med Genet A; 2008 Sep 15; 146A(18):2337-45. PubMed ID: 18697196
    [Abstract] [Full Text] [Related]

  • 37. Facio-cardio-renal (Eastman-Bixler) syndrome.
    Nevin NC, Hill AE, Carson DJ.
    Am J Med Genet; 1991 Jul 01; 40(1):31-3. PubMed ID: 1887846
    [Abstract] [Full Text] [Related]

  • 38. Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.
    Koillinen H, Wong FK, Rautio J, Ollikainen V, Karsten A, Larson O, Teh BT, Huggare J, Lahermo P, Larsson C, Kere J.
    Eur J Hum Genet; 2001 Oct 01; 9(10):747-52. PubMed ID: 11781685
    [Abstract] [Full Text] [Related]

  • 39. Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.
    Van Nesselrooij BP, Spliet W, Beemer FA.
    Clin Dysmorphol; 1998 Jan 01; 7(1):51-3. PubMed ID: 9546831
    [Abstract] [Full Text] [Related]

  • 40. [Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].
    Bidaud C, Salomon R, Edery P, Van Camp G, Pelet A, Bonduelle M, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S.
    Gastroenterol Clin Biol; 1997 Jan 01; 21(8-9):548-54. PubMed ID: 9587491
    [Abstract] [Full Text] [Related]

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