Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

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Human Molecular Genetics, Vol. 18, Iss. 3, 2009-02 ,pp. : 517-524

Oxford University Press

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

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Human Molecular Genetics, Vol. 10, Iss. 5, 2001-03 ,pp. : 529-535

Oxford University Press

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

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Human Molecular Genetics, Vol. 10, Iss. 2, 2001-01 ,pp. : 163-169

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

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Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a –786T → C mutation associated with coronary spastic angina

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