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Journal Abstract Search

182 related items for PubMed ID: 2330259

  • 1. [The Kabuki syndrome].
    Kuandykov EU, Il'ina EG.
    Pediatriia; 1990; (1):105-7. PubMed ID: 2330259
    [No Abstract] [Full Text] [Related]

  • 2. Niikawa-Kuroki (Kabuki) syndrome in two siblings.
    Frediani T, Lucarelli S, Bruni L.
    Minerva Pediatr; 2001 Feb; 53(1):43-8. PubMed ID: 11309542
    [Abstract] [Full Text] [Related]

  • 3. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
    Ariss M, Natan K, Friedman N, Traboulsi EI.
    Ophthalmic Genet; 2012 Sep; 33(3):159-60. PubMed ID: 22486326
    [Abstract] [Full Text] [Related]

  • 4. Genetic landmarks through philately--Kabuki theater and Kabuki syndrome.
    Mhanni AA, Chudley AE.
    Clin Genet; 1999 Aug; 56(2):116-7. PubMed ID: 10517246
    [No Abstract] [Full Text] [Related]

  • 5. Kapur-Toriello syndrome: a further case report and expansion of the phenotype.
    Lefroy H, Goodacre T, Kini U.
    Clin Dysmorphol; 2015 Oct; 24(4):170-2. PubMed ID: 26049588
    [No Abstract] [Full Text] [Related]

  • 6. Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings.
    Kulkarni ML, Sehgal A, Keshavamurthy KS, Kulkarni PM.
    Indian J Pediatr; 2004 Dec; 71(12):e56-7. PubMed ID: 15630331
    [Abstract] [Full Text] [Related]

  • 7. [K.G.B. syndrome: review of the literature and presentation of a case].
    Novembri A, Franchini F, Calzolari C, Vieri PL, Giovannucci ML.
    Arch Putti Chir Organi Mov; 1983 Dec; 33():423-30. PubMed ID: 6677229
    [No Abstract] [Full Text] [Related]

  • 8. The Aicardi syndrome: report of 4 cases and review of the literature.
    Bertoni JM, von Loh S, Allen RJ.
    Ann Neurol; 1979 May; 5(5):475-82. PubMed ID: 111607
    [No Abstract] [Full Text] [Related]

  • 9. [Heterogeneity of Seckel syndrome? Apropos of a case].
    Toudic L, Maroteaux P, Castel Y, Gouedard H, Parent P.
    Ann Pediatr (Paris); 1983 Nov; 30(9):700-4. PubMed ID: 6660802
    [No Abstract] [Full Text] [Related]

  • 10. Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations.
    Weinstein S, Gorlin RJ.
    Am J Dis Child; 1969 Apr; 117(4):427-33. PubMed ID: 4975238
    [No Abstract] [Full Text] [Related]

  • 11. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p).
    Graham W, Brown SM, Shah F, Tonk VS, Kukolich MK.
    Arch Ophthalmol; 1999 Dec; 117(12):1648-9. PubMed ID: 10604674
    [No Abstract] [Full Text] [Related]

  • 12. [Bright ocular background with profound cutis laxa and large fontanelles].
    Marjanovic I, Seitz B, Käsmann-Kellner B.
    Ophthalmologe; 2015 Jan; 112(1):64-6. PubMed ID: 25573084
    [No Abstract] [Full Text] [Related]

  • 13. [The abnormality-retardation syndrome].
    Neuhäuser G.
    Monatsschr Kinderheilkd (1902); 1978 May; 126(5):259-63. PubMed ID: 651909
    [No Abstract] [Full Text] [Related]

  • 14. Kabuki syndrome and cancer in two patients.
    Tumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D'Amico S, Di Cataldo A.
    Am J Med Genet A; 2010 Jun; 152A(6):1536-9. PubMed ID: 20503331
    [Abstract] [Full Text] [Related]

  • 15. Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
    Sinnerbrink IB, Adès LC.
    Clin Dysmorphol; 2004 Jul; 13(3):173-177. PubMed ID: 15194955
    [Abstract] [Full Text] [Related]

  • 16. [Complete chromosome 22 trisomy syndrome in 2 children with microcephaly and mental retardation].
    Novikov PV, Zaletaeva TA, Khuberian NB, Khlybova GP.
    Pediatriia; 1990 Jul; (2):89-92. PubMed ID: 2349049
    [No Abstract] [Full Text] [Related]

  • 17. Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
    al Gazali LI, al Talabani J, Mosawi A, Lytle W.
    Clin Dysmorphol; 1994 Jul; 3(3):238-44. PubMed ID: 7981860
    [Abstract] [Full Text] [Related]

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