Publications
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Author Title [ Year] Filters: Keyword is Signal Transduction and Author is Karaca, Ender [Clear All Filters]
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A 167A, 2795-9 (2015).
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).