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Journal Abstract Search

380 related items for PubMed ID: 6829599

  • 1. 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; 14(1):115-23. PubMed ID: 6829599
    [Abstract] [Full Text] [Related]

  • 2. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.
    Yang SS, Lin CS, Al Saadi A, Nangia BS, Bernstein J.
    Am J Med Genet; 1980 Jan; 7(2):205-13. PubMed ID: 7468648
    [Abstract] [Full Text] [Related]

  • 3. Short rib-polydactyly syndrome, Majewski type.
    Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A.
    Am J Med Genet; 1980 Jan; 7(2):215-22. PubMed ID: 7468649
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
    al-Gazali LI, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, Johansen J.
    J Med Genet; 1999 Jun 01; 36(6):461-6. PubMed ID: 10874634
    [Abstract] [Full Text] [Related]

  • 6. Beemer-Langer type short rib-polydactyly syndrome: report of two cases.
    Tsai FJ, Tsai CH, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1994 Jun 01; 35(4):331-4. PubMed ID: 8085456
    [Abstract] [Full Text] [Related]

  • 7. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
    Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.
    Am J Med Genet; 1990 Sep 01; 37(1):133-5. PubMed ID: 2240030
    [Abstract] [Full Text] [Related]

  • 8. [Short rib-polydactyly syndromes].
    Garcia H, Drescher H, Kuchelmeister K, Lenz W, Roessner A.
    Klin Padiatr; 1988 Sep 01; 200(2):140-4. PubMed ID: 3133521
    [Abstract] [Full Text] [Related]

  • 9. Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging.
    Persutte WH, Lenke RR, Kurczynski TW, Brinker RA.
    Obstet Gynecol; 1988 Sep 01; 72(3 Pt 2):472-5. PubMed ID: 3043297
    [Abstract] [Full Text] [Related]

  • 10. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.
    Dincsoy MY, Salih MA, al-Jurayyan N, al Saadi M, Patel PJ.
    Am J Med Genet; 1995 Apr 10; 56(3):317-21. PubMed ID: 7778599
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.
    Duval A, Boute O, Devisme L, Valat AS, Manouvrier S.
    Am J Med Genet; 1998 Dec 04; 80(4):429-34. PubMed ID: 9856577
    [Abstract] [Full Text] [Related]

  • 13. Monozygotic twins discordant for spondylocostal dysostosis.
    Van Thienen MN, Van der Auwera BJ.
    Am J Med Genet; 1994 Oct 01; 52(4):483-6. PubMed ID: 7747763
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive Robinow syndrome.
    Teebi AS.
    Am J Med Genet; 1990 Jan 01; 35(1):64-8. PubMed ID: 2301471
    [Abstract] [Full Text] [Related]

  • 15. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.
    Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM.
    Am J Med Genet; 1988 Dec 01; 31(4):805-14. PubMed ID: 3239572
    [Abstract] [Full Text] [Related]

  • 16. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
    Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW.
    Am J Med Genet; 1994 Sep 01; 52(3):272-8. PubMed ID: 7810558
    [Abstract] [Full Text] [Related]

  • 17. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship.
    Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B.
    Am J Med Genet; 1981 Sep 01; 8(1):117-27. PubMed ID: 7246601
    [Abstract] [Full Text] [Related]

  • 18. Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
    Toledo C, Navarro-Barros R, Alba L, Muñoz E.
    Ann Genet; 1999 Sep 01; 42(3):170-3. PubMed ID: 10526661
    [Abstract] [Full Text] [Related]

  • 19. Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.
    Aughton DJ.
    Am J Med Genet; 1990 Oct 01; 37(2):178-81. PubMed ID: 2248283
    [No Abstract] [Full Text] [Related]

  • 20. Diagnostic dilemmas in the short rib-polydactyly syndrome group.
    Elçioglu NH, Hall CM.
    Am J Med Genet; 2002 Sep 01; 111(4):392-400. PubMed ID: 12210298
    [Abstract] [Full Text] [Related]

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