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Journal Abstract Search

248 related items for PubMed ID: 11977180

  • 1. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
    Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S.
    Am J Med Genet; 2002 May 01; 109(3):206-10. PubMed ID: 11977180
    [Abstract] [Full Text] [Related]

  • 2. Microcephalic osteodysplastic dysplasia.
    Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL.
    Am J Med Genet; 1994 Jul 01; 51(3):194-9. PubMed ID: 8074143
    [Abstract] [Full Text] [Related]

  • 3. Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling.
    Kerner B, Rimoin DL, Lachman RS.
    Pediatr Radiol; 1998 Oct 01; 28(10):794-7. PubMed ID: 9799303
    [Abstract] [Full Text] [Related]

  • 4. Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient.
    Cerqueira DF, de Souza IP.
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Mar 01; 105(3):353-7. PubMed ID: 18061493
    [Abstract] [Full Text] [Related]

  • 5. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.
    Skórka A, Bielicka-Cymermann J, Gieruszczak-Białek D, Korniszewski L.
    Genet Couns; 2005 Mar 01; 16(4):377-82. PubMed ID: 16440880
    [Abstract] [Full Text] [Related]

  • 6. [Dysgenesis of CNS in dyscranio-pygo-phalangia (author's transl)].
    Hori A, Murofushi K, Iizuka R.
    Acta Neuropathol; 1976 Aug 16; 35(4):327-32. PubMed ID: 822683
    [Abstract] [Full Text] [Related]

  • 7. Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
    Stratton RF, Bluestone DL.
    Am J Med Genet; 1991 Nov 01; 41(2):169-72. PubMed ID: 1785627
    [Abstract] [Full Text] [Related]

  • 8. [A case of type II achondrogenesis].
    Micheli E, Perrone C, Quarta Colosso L, Vetrugno M, Zecca G, Indirli GC, Greco F, Elia G, Ciancio S.
    Pediatr Med Chir; 1996 Nov 01; 18(1):105-7. PubMed ID: 8685014
    [Abstract] [Full Text] [Related]

  • 9. Cerebro-reno-digital syndrome in two sibs.
    Piantanida M, Tiberti A, Plebani A, Martelli P, Danesino C.
    Am J Med Genet; 1993 Sep 01; 47(3):420-2. PubMed ID: 8135292
    [Abstract] [Full Text] [Related]

  • 10. Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
    Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K.
    Am J Med Genet; 1990 Sep 01; 37(1):10-4. PubMed ID: 2240023
    [Abstract] [Full Text] [Related]

  • 11. Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.
    Pottinger CC, Joshi H, Rowe SA, Fryer AE.
    Clin Dysmorphol; 2009 Oct 01; 18(4):228-31. PubMed ID: 19623038
    [No Abstract] [Full Text] [Related]

  • 12. Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus.
    Fraser FC, Jequier S, Chen MF.
    Am J Med Genet; 1989 Nov 01; 34(3):401-5. PubMed ID: 2596528
    [No Abstract] [Full Text] [Related]

  • 13. Bifurcation of the femur with tibial agenesis and additional anomalies.
    van de Kamp JM, van der Smagt JJ, Bos CF, van Haeringen A, Hogendoorn PC, Breuning MH.
    Am J Med Genet A; 2005 Sep 15; 138(1):45-50. PubMed ID: 16100723
    [Abstract] [Full Text] [Related]

  • 14. Joubert syndrome: an affected female with bilateral colobomata.
    Dahlstrom JE, Cookman J, Jain S.
    Pathology; 2000 Nov 15; 32(4):283-5. PubMed ID: 11186426
    [Abstract] [Full Text] [Related]

  • 15. Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.
    Boltshauser E.
    Am J Med Genet; 2002 May 15; 109(4):332. PubMed ID: 11992490
    [No Abstract] [Full Text] [Related]

  • 16. Microphthalmia with linear skin defects: a case report and review.
    Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.
    Pediatr Dermatol; 2008 May 15; 25(5):548-52. PubMed ID: 18950397
    [Abstract] [Full Text] [Related]

  • 17. Symphalangism with metacarpophalangeal fusions and elbow abnormalities.
    Kassner EG, Katz I, Qazi QH.
    Pediatr Radiol; 1976 Feb 13; 4(2):103-7. PubMed ID: 967566
    [Abstract] [Full Text] [Related]

  • 18. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.
    Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J.
    Am J Med Genet; 1998 Apr 28; 77(1):1-7. PubMed ID: 9557884
    [Abstract] [Full Text] [Related]

  • 19. MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
    Witters I, Devriendt K, Spinnewijn D, Moerman P, Van Assche FA, Fryns JP.
    Am J Med Genet; 2002 Jan 22; 107(3):233-6. PubMed ID: 11807905
    [Abstract] [Full Text] [Related]

  • 20. Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.
    Verloes A, David A.
    Am J Med Genet; 1995 Jan 16; 55(2):205-12. PubMed ID: 7717419
    [Abstract] [Full Text] [Related]

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