Publications
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Filters: Author is de Ligt, Joep and Keyword is Intellectual Disability [Clear All Filters]
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 ;23(12):1689-93.
. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
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