| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics |  | | 2010 | 688 | 0 |
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| Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation | Haemophilia | | | 2008 | 592 | 0 |
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| Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case | Movement disorders | | | 2007 | 611 | 0 |
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| Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins | Neurology | | | 2004 | 583 | 0 |
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