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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358.
Brain. 2018.
PMID: 29365063
Free PMC article.
Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.
Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, Hauser N, Regier DS.
Raval DB, et al. Among authors: kofman lh.
Mol Genet Metab Rep. 2016 Dec 9;10:8-10. doi: 10.1016/j.ymgmr.2016.11.007. eCollection 2017 Mar.
Mol Genet Metab Rep. 2016.
PMID: 27995076
Free PMC article.
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