Showing results 57 to 58 of 58
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Title | Author(s) | Issue Date | Views | |
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Two novel CLN2 gene mutations in an Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis [2] Journal:American Journal of Medical Genetics | 2001 | 199 | ||
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation Journal:Clinica Chimica Acta | 2013 | 69 |