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Journal Abstract Search

210 related items for PubMed ID: 9605592

  • 1. Craniometadiaphyseal dysplasia, wormian bone type.
    Santolaya JM, Hall CM, García-Miñaur S, Delgado A.
    Am J Med Genet; 1998 May 18; 77(3):241-5. PubMed ID: 9605592
    [Abstract] [Full Text] [Related]

  • 2. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.
    Langer LO, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL.
    Skeletal Radiol; 1991 May 18; 20(1):37-41. PubMed ID: 2000503
    [Abstract] [Full Text] [Related]

  • 3. Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
    Tamai S, Tojo M, Kamimaki T, Sato Y, Nishimura G.
    Am J Med Genet; 2002 Jan 01; 107(1):78-80. PubMed ID: 11807876
    [No Abstract] [Full Text] [Related]

  • 4. Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study.
    Stempfle N, Huten Y, Fredouille C, Brisse H, Nessmann C.
    Pediatr Radiol; 1999 Sep 01; 29(9):682-8. PubMed ID: 10460330
    [Abstract] [Full Text] [Related]

  • 5. Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
    Corsello G, Albanese A, Piccione M, Giuffrè M, Opitz JM.
    Am J Med Genet; 1996 Dec 18; 66(3):265-8. PubMed ID: 8985484
    [Abstract] [Full Text] [Related]

  • 6. Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
    da-Silva EO, Duarte AR, Lins TS.
    Clin Genet; 1997 Jul 18; 52(1):51-5. PubMed ID: 9272713
    [Abstract] [Full Text] [Related]

  • 7. Skeletal dysplasia with unusual visceral manifestations.
    Ahuja SR, Karande S, Kulkarni MV.
    Postgrad Med J; 2002 Feb 18; 78(916):99-100, 107. PubMed ID: 11807194
    [No Abstract] [Full Text] [Related]

  • 8. Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.
    Courtens W, De laet C, Ziereisen F, Vamos E, Mortier G.
    Ann Genet; 2000 Feb 18; 43(2):81-8. PubMed ID: 10998449
    [Abstract] [Full Text] [Related]

  • 9. [Cloverleaf skull associated with generalized bone defects close to asphyxiating thoracic dysplasia].
    Benallègue A, Lacete F, Maroteaux P.
    Ann Genet; 1987 Feb 18; 30(2):113-7. PubMed ID: 3499843
    [Abstract] [Full Text] [Related]

  • 10. Marshall-Smith syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2015 Apr 18; 35(4):307-9. PubMed ID: 25813678
    [No Abstract] [Full Text] [Related]

  • 11. Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility.
    Nakamura K, Nakada Y, Nakada D.
    Am J Med Genet; 1998 Apr 13; 76(5):389-94. PubMed ID: 9556297
    [Abstract] [Full Text] [Related]

  • 12. Radiographic findings in Shprintzen-Goldberg syndrome.
    Nishimura G, Nagai T.
    Pediatr Radiol; 1996 Nov 13; 26(11):775-8. PubMed ID: 8929375
    [Abstract] [Full Text] [Related]

  • 13. Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
    al-Gazali LI, Bakalinova D, Bakir M.
    Clin Dysmorphol; 1998 Apr 13; 7(2):123-6. PubMed ID: 9571283
    [Abstract] [Full Text] [Related]

  • 14. Spondylar dysplasia in type X collagenopathy.
    Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S.
    Pediatr Radiol; 2001 Feb 13; 31(2):76-80. PubMed ID: 11214689
    [Abstract] [Full Text] [Related]

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  • 17. Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family.
    Rezai-Delui H, Lotfi N, Mamoori G, Rahimi MB.
    Pediatr Radiol; 1999 Feb 13; 29(2):124-30. PubMed ID: 9933333
    [Abstract] [Full Text] [Related]

  • 18. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
    Haye D, Dridi H, Levy J, Lambert V, Lambert M, Agha M, Adjimi F, Kohlhase J, Lipsker D, Verloes A.
    Am J Med Genet A; 2016 Oct 13; 170(10):2750-5. PubMed ID: 27410998
    [Abstract] [Full Text] [Related]

  • 19. [Craniometaphyseal dysplasia--characteristic roentgen findings].
    Schröder C, Quirin A, Oppermann HC, Oldigs HD.
    Klin Padiatr; 1992 Oct 13; 204(3):174-6. PubMed ID: 1614185
    [Abstract] [Full Text] [Related]

  • 20. Mandibulo-acral dysplasia.
    Hoeffel JC, Mainard L, Chastagner P, Hoeffel CC.
    Skeletal Radiol; 2000 Nov 13; 29(11):668-71. PubMed ID: 11201039
    [Abstract] [Full Text] [Related]

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