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A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.
JIMD Rep. 2016;29:19-32. doi: 10.1007/8904_2015_517. Epub 2015 Nov 26.
JIMD Rep. 2016.
PMID: 26608391
Free PMC article.
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.
Berryer MH, et al. Among authors: neugnot cerioli m.
Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12.
Hum Mutat. 2013.
PMID: 23161826
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