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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » C » Consanguinity

Consanguinity

Your search returns 4 documents

  • 1.   Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

    These case reports discuss the cases of 2 related Irish families with clinically severe carbonic anhydrase II deficiency syndrome deficiency in whom the gene mutation has been fully elucidated

    Blood, Vol: 97 Page: 1947-50 April 2001
    C. McMahon; A. Will; P. Hu; G. N. Shah; W. S. Sly; O. P. Smith

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  • 2.   Genetic conditons in the Irish Roma gypsy population

    The aim of this study was to examine genetic conditions in the Irish Roma gypsy population

    Irish Medical Journal, Vol: 98 Page: 3p 2005
    S. O'Connell; K. Butler; J. McMenamin; M. Waldron; A. J. Green

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  • 3.   Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

    This case report discusses a case of neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

    Eur J Paediatr Neurol, Vol: 8 Page: 55-9 2004
    M. A. Kurian; E. S. O'Mahoney; P. Rustin; G. Brown; E. P. Treacy; M. D. King

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  • 4.   The Walker-Warburg phenotype and genotype among Irish Travellers

    This case report discusses Walker-Warburg phenotype and genotype among Irish Travellers

    Clin Dysmorphol, Vol: 17 Page: 119-20 April 2008
    A. M. Murphy; M. Sheridan; M. B. O'Neill; A. Green

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