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Journal Abstract Search

222 related items for PubMed ID: 7802003

  • 21. The distinct ophthalmic phenotype of Knobloch syndrome in children.
    Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS.
    Br J Ophthalmol; 2012 Jun; 96(6):890-5. PubMed ID: 22399687
    [Abstract] [Full Text] [Related]

  • 22. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
    Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.
    Pediatr Neurol; 2014 Dec; 51(6):806-813.e8. PubMed ID: 25456301
    [Abstract] [Full Text] [Related]

  • 23. Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.
    Bertola DR, Wolf LM, Toriello HV, Netzloff ML.
    Am J Med Genet; 1997 Dec 31; 73(4):442-6. PubMed ID: 9415472
    [Abstract] [Full Text] [Related]

  • 24. Autosomal recessive vitreoretinopathy and encephaloceles.
    Cook GR, Knobloch WH.
    Am J Ophthalmol; 1982 Jul 31; 94(1):18-25. PubMed ID: 6979935
    [Abstract] [Full Text] [Related]

  • 25. Tapeto-retinal degeneration in four Norwegian counties, II. Diagnostic evaluation of 407 relatives and genetic evaluation of 87 families.
    Grøndahl J.
    Clin Genet; 1986 Jan 31; 29(1):17-41. PubMed ID: 3948428
    [Abstract] [Full Text] [Related]

  • 26. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
    al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D.
    Clin Dysmorphol; 1999 Apr 31; 8(2):87-92. PubMed ID: 10319196
    [Abstract] [Full Text] [Related]

  • 27. Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report.
    Venkateshappa BM, Raju B, Rallo MS, Jumah F, Suresh SC, Gupta G, Nanda A.
    Pediatr Neurosurg; 2021 Apr 31; 56(3):274-278. PubMed ID: 33789317
    [Abstract] [Full Text] [Related]

  • 28. [Pedigree study of pathological myopia].
    Yu ZQ, Fu CW, Shen FM, Chu RY.
    Yi Chuan Xue Bao; 2005 Feb 31; 32(2):130-5. PubMed ID: 15759859
    [Abstract] [Full Text] [Related]

  • 29. High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population.
    Ghiasvand NM, Shirzad E, Naghavi M, Vaez Mahdavi MR.
    Am J Med Genet; 1998 Jul 07; 78(3):226-32. PubMed ID: 9677055
    [Abstract] [Full Text] [Related]

  • 30. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
    Bonioli E, Palmieri A, Bertola A, Bellini C.
    Genet Couns; 1995 Jul 07; 6(4):309-12. PubMed ID: 8775417
    [Abstract] [Full Text] [Related]

  • 31. Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
    Li S, Wang Y, Sun L, Yan W, Huang L, Zhang Z, Zhang T, Ding X.
    Genes (Basel); 2021 Sep 26; 12(10):. PubMed ID: 34680907
    [Abstract] [Full Text] [Related]

  • 32. Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.
    Sarra GM, Weigell-Weber M, Kotzot D, Niemeyer G, Messmer E, Hergersberg M.
    Arch Ophthalmol; 2003 Aug 26; 121(8):1109-16. PubMed ID: 12912687
    [Abstract] [Full Text] [Related]

  • 33. Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
    dos Santos Rde C, Castro NH, Ferraz OP, Walter-Moura J, Mustachi Z, Pagnan NA, Gollop TR.
    Am J Med Genet; 1992 Aug 01; 43(6):946-8. PubMed ID: 1415344
    [Abstract] [Full Text] [Related]

  • 34. Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.
    Ahmad M, Abbas H, Wahab A, Haque S.
    Am J Med Genet; 1990 Jul 01; 36(3):292-6. PubMed ID: 2363425
    [Abstract] [Full Text] [Related]

  • 35. Hereditary vitreoretinal degenerations.
    Lisch W.
    Dev Ophthalmol; 1983 Jul 01; 8():1-90. PubMed ID: 6852335
    [No Abstract] [Full Text] [Related]

  • 36. The Meckel syndrome in Finland: epidemiologic and genetic aspects.
    Salonen R, Norio R.
    Am J Med Genet; 1984 Aug 01; 18(4):691-8. PubMed ID: 6486168
    [Abstract] [Full Text] [Related]

  • 37. Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
    Camera G, Centa A, Pozzolo S, Camera A.
    Clin Dysmorphol; 1993 Oct 01; 2(4):317-21. PubMed ID: 8305962
    [Abstract] [Full Text] [Related]

  • 38. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
    Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2007 Dec 01; 48(12):5431-8. PubMed ID: 18055789
    [Abstract] [Full Text] [Related]

  • 39. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.
    Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH.
    Clin Genet; 2008 Jun 01; 73(6):566-72. PubMed ID: 18462451
    [Abstract] [Full Text] [Related]

  • 40. The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.
    Gollop TR, Colletto GM.
    Am J Med Genet; 1984 Feb 01; 17(2):399-406. PubMed ID: 6702893
    [Abstract] [Full Text] [Related]

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