Ivan Ivanovski

10PUBLICATIONS
188CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsNeurogeneticsDevelopmental genetics (incl. sex determination)
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Publications (10)

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Apr 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Aug 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Francesca Peluso, Stefano G Caraffi, Gianluca Contrò

|Jul 02, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini

|Oct 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinoma.

Ivan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani

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