Showing results 21 to 31 of 31
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Title | Author(s) | Issue Date | |
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2012 | |||
2010 | |||
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b Journal:Molecular Genetics and Metabolism | 2002 | ||
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor Journal:American Journal of Kidney Diseases | 2001 | ||
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia Journal:Clinica Chimica Acta | 2006 | ||
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity Journal:Clinica Chimica Acta | 2005 | ||
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1 Journal:Journal of Nephrology | 2004 | ||
2001 | |||
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation Journal:Hong Kong Medical Journal | 2008 | ||
2022 | |||
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II Journal:Diagnostic Molecular Pathology | 2010 |