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Journal Abstract Search

179 related items for PubMed ID: 517579

  • 21. Familial 46,XX gonadal dysgenesis.
    Portuondo JA, Neyro JL, Benito JA, de los Rios A, Barral A.
    Int J Fertil; 1987; 32(1):56-8. PubMed ID: 2880817
    [Abstract] [Full Text] [Related]

  • 22. [Distal renal tubular acidosis: report of 3 cases].
    Guibaud P, Parchoux B, Langue J, Bouissou F, Barthe P, Larbre F.
    J Genet Hum; 1979 Jun; 27(2):157-66. PubMed ID: 541679
    [Abstract] [Full Text] [Related]

  • 23. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.
    Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C.
    Nat Genet; 1994 Jan; 6(1):24-8. PubMed ID: 8136828
    [Abstract] [Full Text] [Related]

  • 24. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
    Moog U, Bleeker-Wagemakers EM, Crobach P, Vles JS, Schrander-Stumpel CT.
    Am J Med Genet; 1998 Jul 07; 78(3):263-6. PubMed ID: 9677063
    [Abstract] [Full Text] [Related]

  • 25. Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
    Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F.
    Am J Med Genet A; 2008 Mar 01; 146A(5):661-4. PubMed ID: 18241061
    [Abstract] [Full Text] [Related]

  • 26. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
    Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.
    Hum Genet; 2001 Nov 01; 109(5):535-41. PubMed ID: 11735029
    [Abstract] [Full Text] [Related]

  • 27. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
    Donnai D, Barrow M.
    Am J Med Genet; 1993 Oct 01; 47(5):679-82. PubMed ID: 8266995
    [Abstract] [Full Text] [Related]

  • 28. [Sexual socialization of women with the ovarian dysgenesis syndrome].
    Raboch J, Kobilková J, Stárka L, Raboch J.
    Cesk Gynekol; 1986 Jun 01; 51(5):313-6. PubMed ID: 3719746
    [No Abstract] [Full Text] [Related]

  • 29. Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome.
    Toussi T, Halal F, Lesage R, Delorme F, Bergeron A.
    Am J Med Genet; 1980 Jun 01; 6(2):153-62. PubMed ID: 7446561
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.
    Al-Jaroudi D, Enabi S, AlThagafi MS.
    Gynecol Endocrinol; 2019 Dec 01; 35(12):1037-1039. PubMed ID: 31274036
    [Abstract] [Full Text] [Related]

  • 32. Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.
    El-Shanti H, Ahmad M, Ajlouni K.
    Eur J Pediatr; 2003 Jan 01; 162(1):36-40. PubMed ID: 12486505
    [Abstract] [Full Text] [Related]

  • 33. Copy number variants in premature ovarian failure and ovarian dysgenesis.
    Ledig S, Röpke A, Wieacker P.
    Sex Dev; 2010 Sep 01; 4(4-5):225-32. PubMed ID: 20606390
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Familial ovarian dysgenesis in 46,XX females.
    Vesely DL, Bower RH, Kohler PO, Char F.
    Am J Med Sci; 1980 Jan 01; 280(3):157-66. PubMed ID: 6779629
    [Abstract] [Full Text] [Related]

  • 36. Genetic heterogeneity study of non-syndromic autosomal recessive sensorineural deafness within the Tunisian population.
    Chaabani H, Ben Arab S, Chebbi K.
    Ann Genet; 1995 Jan 01; 38(3):158-61. PubMed ID: 8540687
    [Abstract] [Full Text] [Related]

  • 37. Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.
    Boor R, Herwig J, Schrezenmeir J, Pontz BF, Schönberger W.
    Am J Med Genet; 1993 Mar 01; 45(5):649-53. PubMed ID: 8456839
    [Abstract] [Full Text] [Related]

  • 38. Neurologic anomalies of Perrault syndrome.
    Gottschalk ME, Coker SB, Fox LA.
    Am J Med Genet; 1996 Nov 11; 65(4):274-6. PubMed ID: 8923934
    [Abstract] [Full Text] [Related]

  • 39. A rare cause for primary amenorrhoea.
    Ameen KH, Pinninti R.
    J Hum Reprod Sci; 2012 May 11; 5(2):218-20. PubMed ID: 23162364
    [Abstract] [Full Text] [Related]

  • 40. Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.
    Wilson GN, Squires RH, Weinberg AG.
    Am J Med Genet; 1991 Sep 01; 40(3):255-9. PubMed ID: 1951425
    [Abstract] [Full Text] [Related]

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