Hana Hartmannová

4PUBLICATIONS
72CO-AUTHORS
Cell and nuclear divisionEpidemiological modellingOptical technologyNeurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|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.

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

Lubica Dudakova, Lenka Noskova, Stanislav Kmoch

|Apr 28, 2020
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Ivana Jedličková, Anna Přistoupilová, Lenka Nosková

Pageof 1

Frequent Collaborators

4 joint publications

Viktor Stránecký

4 joint publications

Stanislav Kmoch

3 joint publications

Lenka Nosková

2 joint publications

Kateřina Hodaňová