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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sørensen KP, Helbig KL, Lessel D, Abou Jamra R. Martin S, et al. Among authors: ousager lb. Am J Hum Genet. 2017 Dec 7;101(6):1013-1020. doi: 10.1016/j.ajhg.2017.11.004. Am J Hum Genet. 2017. PMID: 29220673 Free PMC article.
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. Zweier C, et al. Among authors: ousager lb. Am J Hum Genet. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896112 Free PMC article.
[Selenoprotein-related muscular dystrophy].
Hansen LK, Schrøder H, Ousager L. Hansen LK, et al. Ugeskr Laeger. 2011 Nov 28;173(48):3116-7. Ugeskr Laeger. 2011. PMID: 22118657 Danish.
[Genetic causes of infantile spasms--a systematic review].
Hansen LK, Ousager LB, Møller RS, Uldall PV, Hjalgrim H. Hansen LK, et al. Among authors: ousager lb. Ugeskr Laeger. 2012 Apr 23;174(17):1152-5. Ugeskr Laeger. 2012. PMID: 22533931 Review. Danish.
70 results