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Journal Abstract Search

373 related items for PubMed ID: 17515304

  • 21. Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
    Ounap K, Justus I, Lipping-Sitska M.
    Clin Dysmorphol; 1998 Jan; 7(1):45-50. PubMed ID: 9546830
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  • 22. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).
    Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohashi H, Fukushima Y.
    Am J Med Genet; 1994 Feb 01; 49(3):278-80. PubMed ID: 8209886
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  • 23. New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.
    Kohn G, Veder M, Schoenfeld A, el Shawwa R.
    Am J Med Genet; 1989 Dec 01; 34(4):535-40. PubMed ID: 2624264
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  • 26. Absence of nasal bone and brachydactyly: a probable new familial syndrome.
    Guo H, Wang RH, Bai Y, Yang DY.
    Gene; 2013 Sep 15; 527(1):430-3. PubMed ID: 23810940
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  • 27. "New" ectodermal dysplasia with mental retardation and syndactyly.
    Ilyina HG, Amoashy DS, Grygory HA.
    Am J Med Genet; 1995 Sep 25; 58(4):345-7. PubMed ID: 8533843
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  • 28. Report of a case and further delineation of the SHORT syndrome.
    Toriello HV, Wakefield S, Komar K, Higgins JV, Waterman DF.
    Am J Med Genet; 1985 Oct 25; 22(2):311-4. PubMed ID: 4050863
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  • 30. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings.
    Kantaputra PN.
    Am J Med Genet; 2002 Sep 01; 111(4):420-8. PubMed ID: 12210304
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  • 31. Floating-Harbor syndrome: case report.
    Genc G, Sarac A, Erkek Atay N, Kulali F.
    Minerva Pediatr; 2008 Apr 01; 60(2):249-51. PubMed ID: 18449141
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  • 33. Crossed polydactyly type I in a mother and son: an autosomal dominant trait?
    Ishikiriyama S, Sawada H, Nambu H, Niikawa N.
    Am J Med Genet; 1991 Jul 01; 40(1):41-3. PubMed ID: 1887848
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  • 37. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.
    Guttmacher AE.
    Am J Med Genet; 1993 Apr 15; 46(2):219-22. PubMed ID: 8484413
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  • 38. Russell-Silver syndrome: a study of 3 cases.
    Kulkarni ML, Venkataramana V, Sureshkumar C, Shabeer HM.
    Ann Dent; 1995 Apr 15; 54(1-2):56-60. PubMed ID: 8572550
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  • 40. Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.
    Ohzeki T, Hanaki K, Motozumi H, Ohtahara H, Shiraki K, Yoshioka K.
    Am J Med Genet; 1993 May 15; 46(3):260-2. PubMed ID: 8387724
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