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Journal Abstract Search

126 related items for PubMed ID: 2801768

  • 1. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
    Lowry RB, Wood BJ, Cox TA, Hayden MR.
    Am J Med Genet; 1989 Jul; 33(3):341-5. PubMed ID: 2801768
    [Abstract] [Full Text] [Related]

  • 2. Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.
    Lowry RB, Wood BJ.
    Clin Genet; 1975 Oct; 8(4):269-74. PubMed ID: 1183069
    [Abstract] [Full Text] [Related]

  • 3. Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?
    Hankenson LG, Ozonoff MB, Cassidy SB.
    Am J Med Genet; 1989 Jul; 33(3):336-40. PubMed ID: 2801767
    [Abstract] [Full Text] [Related]

  • 4. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC, Thomas PS, Hutchinson J.
    Am J Med Genet; 1986 May; 24(1):33-9. PubMed ID: 3706411
    [Abstract] [Full Text] [Related]

  • 5. A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.
    Buntinx IM, Lormans JA, Martin JJ, Dumon JE.
    Genet Couns; 1991 May; 2(4):237-40. PubMed ID: 1799423
    [No Abstract] [Full Text] [Related]

  • 6. Retinitis pigmentosa associated with ectopia lentis.
    Sato H, Wada Y, Abe T, Kawamura M, Wakusawa R, Tamai M.
    Arch Ophthalmol; 2002 Jun; 120(6):852-4. PubMed ID: 12049599
    [No Abstract] [Full Text] [Related]

  • 7. The hip in heritable conditions of connective tissue.
    Stelling FH.
    Clin Orthop Relat Res; 1973 Jun; (90):33-49. PubMed ID: 4631907
    [No Abstract] [Full Text] [Related]

  • 8. Congenital see-saw nystagmus associated with retinitis pigmentosa.
    Bergin DJ, Halpern J.
    Ann Ophthalmol; 1986 Dec; 18(12):346-9. PubMed ID: 3813357
    [Abstract] [Full Text] [Related]

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  • 10. A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae. Report of 2 cases in siblings.
    Singh SD, Chhaparwal BC, Dhanda RP, Pohowalla JN.
    Indian J Pediatr; 1970 May; 37(268):197-9. PubMed ID: 4397433
    [No Abstract] [Full Text] [Related]

  • 11. Hypopigmentation of the fundi associated with Pallister-Killian syndrome.
    Birch M, Patterson A, Fryer A.
    J Pediatr Ophthalmol Strabismus; 1995 May; 32(2):128-31. PubMed ID: 7629670
    [No Abstract] [Full Text] [Related]

  • 12. A new familial syndrome with osseous dysplasia and mental dificiency.
    Ruvalcaba RH, Reichert A, Smith DW.
    J Pediatr; 1971 Sep; 79(3):450-5. PubMed ID: 5567967
    [No Abstract] [Full Text] [Related]

  • 13. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
    Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2005 May; 13(5):541-6. PubMed ID: 15726110
    [Abstract] [Full Text] [Related]

  • 14. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.
    Sugarman GI, Landing BH, Reed WB.
    Clin Pediatr (Phila); 1977 Mar; 16(3):225-32. PubMed ID: 837626
    [No Abstract] [Full Text] [Related]

  • 15. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
    Phillips CI, Wynne-Davies R, Stokoe NL, Newton M.
    J Med Genet; 1981 Feb; 18(1):46-9. PubMed ID: 7252997
    [Abstract] [Full Text] [Related]

  • 16. Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
    Magnani C, Tedesco SA, Dallaglio S, Sommi M, Bacchini E, Vetro A, Zuffardi O, Bevilacqua G.
    Am J Med Genet A; 2009 Feb 15; 149A(4):737-41. PubMed ID: 19288552
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  • 18. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
    Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A.
    Am J Med Genet; 1993 Oct 01; 47(5):765-71. PubMed ID: 8267010
    [Abstract] [Full Text] [Related]

  • 19. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F, Sammito V, Bellussi A, Neri G.
    Am J Med Genet; 1992 Oct 01; 44(3):315-20. PubMed ID: 1488978
    [No Abstract] [Full Text] [Related]

  • 20. Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
    Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R.
    Am J Med Genet; 2001 Jan 22; 98(3):244-9. PubMed ID: 11169562
    [Abstract] [Full Text] [Related]

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