Mateja Smogavec

4PUBLICATIONS
25CO-AUTHORS
Physical organic chemistryCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (4)

|Apr 23, 2026

|Jan 05, 2026
A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.

Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler

|Mar 13, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova

|Jan 02, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Mateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner

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