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Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20.
Am J Hum Genet. 2016.
PMID: 27773429
Free PMC article.
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H.
Magen D, et al. Among authors: nijem y.
Hum Genet. 2015 Mar;134(3):315. doi: 10.1007/s00439-015-1530-0.
Hum Genet. 2015.
PMID: 25609191
No abstract available.
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Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H.
Magen D, et al. Among authors: nijem y.
Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6.
Hum Genet. 2015.
PMID: 25560765
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