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Journal Abstract Search

152 related items for PubMed ID: 8209898

  • 1. Additional case of opsismodysplasia supporting autosomal recessive inheritance.
    Beemer FA, Kozlowski KS.
    Am J Med Genet; 1994 Feb 01; 49(3):344-7. PubMed ID: 8209898
    [Abstract] [Full Text] [Related]

  • 2. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E.
    Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun 01; 21(2):317-24. PubMed ID: 4014313
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive craniometaphyseal dysplasia.
    Penchaszadeh VB, Gutierrez ER, Figueroa E.
    Am J Med Genet; 1980 Jun 01; 5(1):43-55. PubMed ID: 7395899
    [No Abstract] [Full Text] [Related]

  • 5. Acrocallosal syndrome in two African brothers born to consanguineous parents.
    Christianson AL, Venter PA, Du Toit JL, Shipalana N, Gericke GS.
    Am J Med Genet; 1994 Jun 01; 51(2):98-101. PubMed ID: 8092201
    [Abstract] [Full Text] [Related]

  • 6. [Robinow's syndrome associated with deafness].
    Samoud A, Menif K, Boulaares M, Ben Dridi MF.
    Arch Fr Pediatr; 1993 Dec 01; 50(10):897-9. PubMed ID: 8053771
    [Abstract] [Full Text] [Related]

  • 7. Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings.
    Froster UG, Rehder H, Höhn W, Oberheuser F.
    Am J Med Genet; 1993 Oct 01; 47(5):717-22. PubMed ID: 8267003
    [Abstract] [Full Text] [Related]

  • 8. [Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].
    Jalaguier J, Montoya F, Germain M, Bonnet H.
    J Genet Hum; 1983 Dec 01; 31 Suppl 5():385-95. PubMed ID: 6674414
    [Abstract] [Full Text] [Related]

  • 9. [Clinical case of craniometaphyseal dysplasia].
    Parascandolo S, Grulliero A, Tortora P, Marasca F.
    Minerva Stomatol; 1985 Dec 01; 34(4):671-5. PubMed ID: 3862947
    [No Abstract] [Full Text] [Related]

  • 10. A Japanese male infant with the Weaver syndrome.
    Kondo I, Mori Y, Kuwajima K.
    Jinrui Idengaku Zasshi; 1990 Sep 01; 35(3):257-62. PubMed ID: 2266602
    [Abstract] [Full Text] [Related]

  • 11. Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.
    Moreno LA, Turck D, Gottrand F, Fabre M, Manouvrier-Hanu S, Farriaux JP.
    Am J Med Genet; 1989 Dec 01; 34(4):584-6. PubMed ID: 2624273
    [Abstract] [Full Text] [Related]

  • 12. Craniometaphyseal dysplasia (CMD), autosomal dominant form.
    Beighton P.
    J Med Genet; 1995 May 01; 32(5):370-4. PubMed ID: 7616544
    [No Abstract] [Full Text] [Related]

  • 13. [3M syndrome: case history].
    Fehlow P.
    Klin Padiatr; 2006 May 01; 218(5):287-91. PubMed ID: 16586274
    [Abstract] [Full Text] [Related]

  • 14. A distinct skeletal dysplasia in an infant from consanguineous parents.
    Cantú JM, Manzano C, Pagan P, García-Cruz D, Hernández A.
    Rev Invest Clin; 1976 May 01; 28(3):255-61. PubMed ID: 830095
    [No Abstract] [Full Text] [Related]

  • 15. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
    Moretti P, Hedera P, Wald J, Fink J.
    Mov Disord; 2005 Feb 01; 20(2):245-7. PubMed ID: 15390074
    [Abstract] [Full Text] [Related]

  • 16. A further case of opsismodysplasia with hydrocephalus.
    Ramos FJ, González JP, Cortabarria C, Domenech E, Pérez-González J, Bueno M.
    Eur J Med Genet; 2006 Feb 01; 49(1):93-100. PubMed ID: 16473316
    [Abstract] [Full Text] [Related]

  • 17. The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
    Lizcano-Gil LA, Garcia-Cruz D, Cantu JM, Fryns JP.
    Genet Couns; 1994 Feb 01; 5(4):387-92. PubMed ID: 7888143
    [Abstract] [Full Text] [Related]

  • 18. The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.
    Gollop TR, Colletto GM.
    Am J Med Genet; 1984 Feb 01; 17(2):399-406. PubMed ID: 6702893
    [Abstract] [Full Text] [Related]

  • 19. Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.
    Koppel R, Friedman S, Fallet S.
    Am J Med Genet; 1996 Aug 23; 64(3):485-7. PubMed ID: 8862626
    [Abstract] [Full Text] [Related]

  • 20. [Review of cranio-maxillo-facial malformations characterized by abnormal bone density].
    Reychler H.
    Ann Chir Plast Esthet; 1990 Aug 23; 35(5):421-31. PubMed ID: 1712572
    [Abstract] [Full Text] [Related]

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