Stanislav Kmoch

11PUBLICATIONS
136CO-AUTHORS
Cell and nuclear divisionEpidemiological modellingNeurogeneticsOptical technologyPeripheral nervous system
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Publications (11)

|Aug 20, 2026
Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Apr 14, 2025
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.

Lubica Dudakova, Lenka Noskova, Stanislav Kmoch

|Nov 28, 2024
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

Wen-Chin Weng, Vaclava Skopova, Veronika Baresova

|Feb 15, 2024
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Dita Mušálková, Anna Přistoupilová, Ivana Jedličková

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Frequent Collaborators

4 joint publications

Viktor Stránecký

4 joint publications

Hana Hartmannová

3 joint publications

Lenka Nosková

2 joint publications

Pierre Blanc