Lenka Noskova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 30 publications
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: April 02, 2026
A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.
Journal: Frontiers in genetics
Published: March 06, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 2025
A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis.
Journal: Kidney international
Published: July 24, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: June 23, 2024
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: June 23, 2024
Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.
Journal: Clinical parkinsonism & related disorders
Published: April 19, 2024
Last Updated: 09/26/2026