L. Rifai

Most-cited papers

1. Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

   L. Rifai, M. Port-Lis, A. Tabet, I. Bailleul‐Forestier +6 more

   2010American Journal of Medical Genetics. Part A33 citations

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2. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

   J. Hellemans, Marleen E. H. Simon, A. Dheedene, Y. Alanay +7 more

   2009American Journal of Human Genetics32 citations Open access

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3. Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia

   S. Bandiera, F. Cartault, A. Jannot, E. Hatem +6 more

   2013PLoS ONE30 citations Open access

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4. Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa

   L. Rifai, W. Maazouzi, A. Sefiani

   2006Cardiology in the Young14 citations

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5. Autosomal dominant microtia.

   S. Elalaoui, I. Jaouad, L. Rifai, A. Sefiani

   2010European Journal of Medical Genetics13 citations

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