Showing results 52 to 58 of 58
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Title | Author(s) | Issue Date | |
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Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene Journal:Hong Kong Medical Journal | 2011 | ||
2000 | |||
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b Journal:Clinica Chimica Acta | 2006 | ||
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. Journal:Journal of medical genetics | 2000 | ||
Sustainable Fashion Textiles Research on Innovative 3D Spacer Fabrics Comprising Shape Memory Alloy Wire for Pressure Reduction and Redistribution Proceeding/Conference:The Textile Institute World Conference | 2018 | ||
Two novel CLN2 gene mutations in an Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis [2] Journal:American Journal of Medical Genetics | 2001 | ||
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation Journal:Clinica Chimica Acta | 2013 |