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List of works by Noman Kadhom

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

scientific article (publication date: March 2005)

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

scientific article

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

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