Associated Papers
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn
Blepharospasm in a multiplex African-American pedigree.
Xiao J et al.
Journal of the Neurological Sciences, 2016
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
Schoeler NE et al.
Developmental Medicine and Child Neurology, 2015
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