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Journal Abstract Search

198 related items for PubMed ID: 4014313

  • 1. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313
    [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. A new autosomal recessive disorder resembling Weaver syndrome.
    Teebi AS, Sundareshan TS, Hammouri MY, al-Awadi SA, al-Saleh QA.
    Am J Med Genet; 1989 Aug 01; 33(4):479-82. PubMed ID: 2596508
    [Abstract] [Full Text] [Related]

  • 4. Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.
    Kääriäinen H, Barrow M, Hennekam R.
    Am J Med Genet; 1993 Apr 15; 46(2):223-7. PubMed ID: 8484414
    [Abstract] [Full Text] [Related]

  • 5. Autosomal recessive Robinow syndrome.
    Teebi AS.
    Am J Med Genet; 1990 Jan 15; 35(1):64-8. PubMed ID: 2301471
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Conductive deafness with ptosis and skeletal malformations in sibs: a probably autosomal recessive disorder.
    Jackson LG, Barr MA.
    Birth Defects Orig Artic Ser; 1978 Feb 01; 14(6B):199-204. PubMed ID: 728561
    [No Abstract] [Full Text] [Related]

  • 8. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness.
    Nance WE, Sweeney A.
    Birth Defects Orig Artic Ser; 1971 Mar 01; 07(4):70-2. PubMed ID: 5173352
    [Abstract] [Full Text] [Related]

  • 9. 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]

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

  • 11. Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
    Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP.
    Genet Couns; 1996 Feb 01; 7(3):177-86. PubMed ID: 8897038
    [Abstract] [Full Text] [Related]

  • 12. A probably distinct autosomal recessive thoraco-limb dysplasia.
    Rivera H, Perez-Salas JM, Nazara Z, Ramirez ML.
    J Med Genet; 1988 Sep 01; 25(9):619-22. PubMed ID: 3184141
    [Abstract] [Full Text] [Related]

  • 13. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
    Borochowitz Z, Langer LO, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.
    Am J Med Genet; 1993 Feb 01; 45(3):320-6. PubMed ID: 8434618
    [Abstract] [Full Text] [Related]

  • 14. Consanguinity and deafness in Omani children.
    Khabori MA, Patton MA.
    Int J Audiol; 2008 Jan 01; 47(1):30-3. PubMed ID: 18196484
    [Abstract] [Full Text] [Related]

  • 15. Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
    Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.
    Am J Med Genet; 1992 Aug 01; 43(6):989-95. PubMed ID: 1415350
    [Abstract] [Full Text] [Related]

  • 16. A new short rib syndrome: report of two cases.
    Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC.
    Am J Med Genet; 1983 Jan 01; 14(1):115-23. PubMed ID: 6829599
    [Abstract] [Full Text] [Related]

  • 17. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979 Jan 01; 4(3):239-46. PubMed ID: 517579
    [Abstract] [Full Text] [Related]

  • 18. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
    Santos H, Mateus J, Leal MJ.
    J Med Genet; 1988 Mar 01; 25(3):204-5. PubMed ID: 3351909
    [Abstract] [Full Text] [Related]

  • 19. Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
    dos Santos Rde C, Castro NH, Ferraz OP, Walter-Moura J, Mustachi Z, Pagnan NA, Gollop TR.
    Am J Med Genet; 1992 Aug 01; 43(6):946-8. PubMed ID: 1415344
    [Abstract] [Full Text] [Related]

  • 20. Setleis syndrome: autosomal recessive or autosomal dominant inheritance?
    al-Gazali LI, al-Talabani J.
    Clin Dysmorphol; 1996 Jul 01; 5(3):249-53. PubMed ID: 8818454
    [Abstract] [Full Text] [Related]

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