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Journal Abstract Search

129 related items for PubMed ID: 12687665

  • 1. Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.
    Korniszewski L, Arbuckle S, Kozlowski K.
    Am J Med Genet A; 2003 May 01; 118A(4):343-9. PubMed ID: 12687665
    [Abstract] [Full Text] [Related]

  • 2. Fibrochondrogenesis: radiologic and histologic studies.
    Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL.
    Am J Med Genet; 1984 Oct 01; 19(2):277-90. PubMed ID: 6507479
    [Abstract] [Full Text] [Related]

  • 3. Schneckenbecken dysplasia in fetus: report of four cases.
    Lahmar-Boufaroua A, Yacoubi MT, Belaid L, Delezoide AL.
    Fetal Diagn Ther; 2009 Oct 01; 25(2):216-9. PubMed ID: 19407457
    [Abstract] [Full Text] [Related]

  • 4. A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
    Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL.
    Am J Med Genet; 1986 Sep 01; 25(1):47-59. PubMed ID: 3799723
    [Abstract] [Full Text] [Related]

  • 5. Radiological evolution in IMAGe association: a case report.
    Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2130-3. PubMed ID: 18627061
    [Abstract] [Full Text] [Related]

  • 6. Thin ribs, thin tubular bones, abnormal facies and intrauterine growth retardation: a lethal syndrome.
    Sharma BK, Kapoor R, Ramji S, Thirupuram S, Suri M.
    Br J Radiol; 1990 Aug 15; 63(752):654-6. PubMed ID: 2400886
    [No Abstract] [Full Text] [Related]

  • 7. Metatropic dysplasia lethal variants.
    Hall CM, Elçioglu NH.
    Pediatr Radiol; 2004 Jan 15; 34(1):66-74. PubMed ID: 14566438
    [Abstract] [Full Text] [Related]

  • 8. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
    Nadjari M, Fasouliotis SJ, Ariel I, Raas-Rothschild A, Bar-Ziv J, Elchalal U.
    Prenat Diagn; 2000 Aug 15; 20(8):666-9. PubMed ID: 10951479
    [Abstract] [Full Text] [Related]

  • 9. Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
    Savarirayan R, Cormier-Daire V, Unger S, Lachman RS, Roughley PJ, Wagner SF, Rimoin DL, Wilcox WR.
    Am J Med Genet; 2000 Nov 27; 95(3):193-200. PubMed ID: 11102922
    [Abstract] [Full Text] [Related]

  • 10. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Tsirikos AI, Mason DE, Scott CI, Chang WN.
    Am J Med Genet A; 2003 Jun 15; 119A(3):386-90. PubMed ID: 12784311
    [Abstract] [Full Text] [Related]

  • 11. A female case of Sedaghatian type spondylometaphyseal dysplasia.
    Foulds N, Fairhurst J, Temple IK, Cade S, Groves C, Lancaster T.
    Am J Med Genet A; 2003 May 01; 118A(4):377-81. PubMed ID: 12687672
    [Abstract] [Full Text] [Related]

  • 12. Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia.
    Urioste M, Rodríguez JI, Bofarull JM, Torán N, Ferrer C, Villa A.
    Am J Med Genet; 1997 Jan 31; 68(3):342-6. PubMed ID: 9024569
    [Abstract] [Full Text] [Related]

  • 13. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
    Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR.
    Pediatr Radiol; 1998 Oct 31; 28(10):759-63. PubMed ID: 9799297
    [Abstract] [Full Text] [Related]

  • 14. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
    Sulko J, Kozlowski K.
    J Pediatr Orthop B; 2008 Nov 31; 17(6):323-7. PubMed ID: 18841068
    [Abstract] [Full Text] [Related]

  • 15. Schimke immuno-osseous dysplasia: two cases.
    Tylki-Szymańska A, Pyrkosz A, Krajewska-Walasek M, Michałkiewicz J, Kowalska A, Rokicki D.
    Pediatr Radiol; 2003 Mar 31; 33(3):216-8. PubMed ID: 12612825
    [Abstract] [Full Text] [Related]

  • 16. [The chondrodystrophic child].
    Tenhaeff D, Büttinghaus K, Moayer M, Callies R.
    Geburtshilfe Frauenheilkd; 1972 Aug 31; 32(8):666-70. PubMed ID: 4561127
    [No Abstract] [Full Text] [Related]

  • 17. [Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration].
    Khaldi F, Bennaceur B, Gharbi HA.
    Arch Fr Pediatr; 1989 Aug 31; 46(6):429-32. PubMed ID: 2783003
    [Abstract] [Full Text] [Related]

  • 18. Gracile bone dysplasia.
    Thomas JA, Rimoin DL, Lachman RS, Wilcox WR.
    Am J Med Genet; 1998 Jan 06; 75(1):95-100. PubMed ID: 9450865
    [Abstract] [Full Text] [Related]

  • 19. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings.
    Kerr B, Smith V, Patel R, Ladusans E, Sillence DO.
    Clin Dysmorphol; 2000 Jul 06; 9(3):167-72. PubMed ID: 10955475
    [Abstract] [Full Text] [Related]

  • 20. Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.
    Whitley CB, Langer LO, Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R.
    Am J Med Genet; 1984 Oct 06; 19(2):265-75. PubMed ID: 6507478
    [Abstract] [Full Text] [Related]

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