Ivana Mihalek

Singapore, Singapore

Last Updated: 09/26/2026

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Found 8 publications

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Journal: Epilepsia
Published: September 13, 2018

The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.

The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.

Journal: Molecular and cellular biology
Published: January 17, 2018

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Journal: Cold Spring Harbor molecular case studies
Published: June 06, 2017

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Journal: PloS one
Published: May 22, 2017

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Journal: Clinical genetics
Published: March 24, 2015

Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling.

Active site coupling in PDE:PKA complexes promotes resetting of mammalian cAMP signaling.

Journal: Biophysical journal
Published: March 14, 2014

Cube - an online tool for comparison and contrasting of protein sequences.

Cube - an online tool for comparison and contrasting of protein sequences.

Journal: PloS one
Published: May 08, 2013

Cube-DB: detection of functional divergence in human protein families.

Cube-DB: detection of functional divergence in human protein families.

Journal: Nucleic acids research
Published: December 06, 2011
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Last Updated: 09/26/2026