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Clinical Genetics|August 15, 2008
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patientsJ Oliveira, R Santos, I Soares-Silva, et al.
Brain : a Journal of Neurology|August 22, 2009
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patientsM Anheim, B Monga, M Fleury, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.
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