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Noman Kadhom

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
2009 · Sarah Boissel, Orit Reish, et al. · The American Journal of Human Genetics · 406
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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
2000 · Agnés Rötig, Eeva-Liisa Appelkvist, et al. · The Lancet · 360
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
2001 · Pascale de Lonlay, Isabelle Valnot, et al. · Nature Genetics · 332
Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy
2005 · Florence Molinari, Annick Raas-Rothschild, et al. · The American Journal of Human Genetics · 166
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
2003 · Laure Thuillier, Hidayeth Rostane, et al. · Human Mutation · 111
Spectrum ofMKS1andMKS3mutations in Meckel syndrome: a genotype-phenotype correlation
2007 · Rana Khaddour, Ursula Smith, et al. · Human Mutation · 99
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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: MUTATIONS IN BRIEF
2005 · Marie-Hélène Odièvre, Dominique Chretien, et al. · Human Mutation · 88
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome
2003 · Paule Bénit, Julie Steffann, et al. · Human Genetics · 60
Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community
2001 · Carina Prip-Buus, Laure Thuillier, et al. · Molecular Genetics and Metabolism · 54
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 · Sophie Lebon, Limor Minai, et al. · Molecular Genetics and Metabolism · 52
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion
2001 · Vanna Geromel, Noman Kadhom, et al. · Free Radical Research · 18
Etude de l'heterogeneite genetique du deficit en uridyltransferase. Recherche de complementation interallelique par utilisation des techniques de fusion cellulaire
1990 · Noman Kadhom
Works count: 13
Citation count: 1,746
H-index: 11
I10-index: 11
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