Hana Hartmannová

3PUBLICATIONS
49CO-AUTHORS
Epidemiological modellingOptical technologyNeurology and neuromuscular diseases
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Publications (3)

|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

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Frequent Collaborators

3 joint publications

Lenka Nosková

3 joint publications

Viktor Stránecký

3 joint publications

Stanislav Kmoch

1 joint publications

Ivana Jedličková