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Noman Kadhom

Necker-Enfants Malades Hospital

8

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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

2009 American Journal of Human Genetics
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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

2007 Molecular Genetics and Metabolism
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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation†‡

2007 Human Mutation
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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

2005 American Journal of Human Genetics
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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α‐ketoglutarate dehydrogenase deficiency

2005 Human Mutation
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Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

2001 American Journal of Human Genetics
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Caractérisation enzymatique et moléculaire d'un déficit en α-cétoglutarate déshydrogénase chez trois frères porteurs d'une encépahalopathie évolutive

1997 Archives De Pediatrie
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