Showing results 3 to 4 of 4
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Title | Author(s) | Issue Date | Views | |
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Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b Journal:Clinica Chimica Acta | 2006 | |||
A Rett syndrome MECP2 mutation that causes mental retardation in men Journal:Neurology | 2002 | 145 |