Showing results 55 to 57 of 57 < previous
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.
Journal:Journal of medical genetics
Two novel CLN2 gene mutations in an Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis 
Journal:American Journal of Medical Genetics
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
Journal:Clinica Chimica Acta