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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » A » Abnormalities, Multiple/ genetics

Abnormalities, Multiple/ genetics

Your search returns 5 documents

  • 1.   Annotation: velo-cardio-facial syndrome

    This article discusses Velo-Cardio-facial syndrome and its association with psychiatric disorders

    J Child Psychol Psychiatry, Vol: 46 Page: 563-71 June 2005
    K. C. Murphy

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  • 2.   Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

    This case report discusses a 10 year old girl with "odd shaped" skull and family history of craniosynostois

    Ulster Med J, Vol: 70 Page: 47-50 May 2001
    J. Hughes; N. C. Nevin; P. J. Morrison

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  • 3.   Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

    This article discusses kidney failure as a constituent element of the natural history of Townes-Brocks syndrome

    Am J Med Genet A, Vol: 143A Page: 2588-91 November 2007
    W. Reardon; L. F. Casserly; R. Birkenhager; J. Kohlhase

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  • 4.   Malpuech syndrome: facial features in the absence of clefting

    This case report discusses a girl with Malpuech Syndrome

    Clin Dysmorphol, Vol: 15 Page: 243-4 October 2006
    S. M. Finn; S. A. Lynch

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  • 5.   The behavioural phenotype in velo-cardio-facial syndrome

    This article discusses the behavioural phenotype in velo-cardio-facial syndrome

    J Intellect Disabil Res, Vol: 48 Page: 524-30 September 2004
    K. C. Murphy

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