Showing results 8 to 13 of 13
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Title | Author(s) | Issue Date | |
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Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients Journal:Journal of Clinical Pathology | 2012 | ||
2011 | |||
2011 | |||
Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2] Journal:Clinica Chimica Acta | 2006 | ||
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia Journal:Clinica Chimica Acta | 2006 | ||
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing Journal:International Journal of Molecular Sciences | 2017 |