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Journal Abstract Search

96 related items for PubMed ID: 304503

  • 1. [Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (author's transl)].
    Newell FW, Diddie KR.
    Klin Monbl Augenheilkd; 1977 Nov; 171(5):731-4. PubMed ID: 304503
    [Abstract] [Full Text] [Related]

  • 2. Initial rapid decrease in visual acuity in siblings with Stargardt's disease.
    Hayasaka S, Kurome H, Noda S, Mihara M.
    Jpn J Ophthalmol; 1993 Nov; 37(4):485-9. PubMed ID: 8145394
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
    Bonioli E, Palmieri A, Bertola A, Bellini C.
    Genet Couns; 1995 Nov; 6(4):309-12. PubMed ID: 8775417
    [Abstract] [Full Text] [Related]

  • 4. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 5. [Electroretinogram and electrooculogram in a family with Stargardt's disease].
    Pojda-Wilczek D, Makowiecka-Obidzińska K, Herba E.
    Klin Oczna; 2004 Aug; 106(3 Suppl):540-1. PubMed ID: 15636262
    [Abstract] [Full Text] [Related]

  • 6. Gillespie syndrome: a report of two further cases.
    Nelson J, Flaherty M, Grattan-Smith P.
    Am J Med Genet; 1997 Aug 08; 71(2):134-8. PubMed ID: 9217210
    [Abstract] [Full Text] [Related]

  • 7. A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?
    Maximilian C, Ioan DM, Fryns JP.
    Genet Couns; 1992 Aug 08; 3(2):115-8. PubMed ID: 1642809
    [Abstract] [Full Text] [Related]

  • 8. Usher syndrome in four siblings from a consanguineous family of Pakistani origin.
    Trop I, Schloss MD, Polomeno R, Der Kaloustian V.
    J Otolaryngol; 1995 Apr 08; 24(2):102-4. PubMed ID: 7602669
    [Abstract] [Full Text] [Related]

  • 9. Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature.
    Krajewska-Walasek M.
    Genet Couns; 1994 Apr 08; 5(4):345-55. PubMed ID: 7888136
    [Abstract] [Full Text] [Related]

  • 10. New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.
    Ehara H, Nakano C, Ohno K, Goto YI, Takeshita K.
    Am J Med Genet; 1997 Aug 22; 71(3):258-66. PubMed ID: 9268092
    [Abstract] [Full Text] [Related]

  • 11. Hereditary blindness among Pingelapese people of Eastern Caroline Islands.
    Brody JA, Hussels I, Brink E, Torres J.
    Lancet; 1970 Jun 13; 1(7659):1253-7. PubMed ID: 4192495
    [No Abstract] [Full Text] [Related]

  • 12. [Amaurosis congenita (Leber) with severe genital developmental delay].
    Fehlow P.
    Padiatr Grenzgeb; 1989 Jun 13; 28(4):237-40. PubMed ID: 2797836
    [Abstract] [Full Text] [Related]

  • 13. Retinal cone dystrophy and chromosome 6(q26) deletions.
    Warburg M, Tranebjaerg L, Sjö O.
    Ann Genet; 1990 Jun 13; 33(2):124. PubMed ID: 2241088
    [No Abstract] [Full Text] [Related]

  • 14. Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions.
    De Bleecker J, De Reuck J, Martin JJ, Ceuterick C, Carton D, Leroy J.
    Clin Neuropathol; 1990 Jun 13; 9(6):299-304. PubMed ID: 2286022
    [Abstract] [Full Text] [Related]

  • 15. Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy.
    Stoll C, Finck S, Janser B, Printz M, Lutz P.
    Genet Couns; 1992 Jun 13; 3(1):41-7. PubMed ID: 1590980
    [Abstract] [Full Text] [Related]

  • 16. [The cryptophthalmus syndrome (author's transl)].
    Schönenberg H.
    Klin Padiatr; 1973 May 13; 185(3):165-72. PubMed ID: 4200707
    [No Abstract] [Full Text] [Related]

  • 17. [Genetically determinded deafness; 5 cases of Pendred's syndrome (author's transl)].
    Hörmann K, Held KR.
    HNO; 1980 Jun 13; 28(6):206-8. PubMed ID: 6253416
    [Abstract] [Full Text] [Related]

  • 18. Bull's-eye maculopathy and negative electroretinogram.
    Miyake Y, Shiroyama N, Horiguchi M, Saito A, Yagasaki K.
    Retina; 1989 Jun 13; 9(3):210-5. PubMed ID: 2595114
    [Abstract] [Full Text] [Related]

  • 19. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
    Pallister PD, Opitz JM.
    Am J Med Genet; 1979 Jun 13; 4(3):239-46. PubMed ID: 517579
    [Abstract] [Full Text] [Related]

  • 20. Autosomal recessive congenital stenosis of aqueduct of Sylvius.
    Barros-Nuñes P, Rivas F.
    Genet Couns; 1993 Jun 13; 4(1):19-23. PubMed ID: 8471217
    [Abstract] [Full Text] [Related]

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