Defining neurogenetic phenotypes (or how to compare needles in haystacks)
- PMID: 20157007
- DOI: 10.1093/brain/awq027
Defining neurogenetic phenotypes (or how to compare needles in haystacks)
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
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Attenuated variants of Lesch-Nyhan disease.Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.
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