Publications by authors named "Kristi Simenson"

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Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.
Hardo Lilleväli, Karit Reinson, Kai Muru, Kristi Simenson, Ülle Murumets

JIMD Rep· September 2017

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A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
Kristi Simenson, Eve Õiglane-Shlik, Rita Teek, Kati Kuuse, Katrin Õunap

Am J Med Genet A· March 2014

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