Karolina Kramarzova-Skvarova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 12 publications

CD Molecules Nomenclature 2025: Antibody Validation and Expression Profiling of Immune System G Protein-Coupled Receptors.

CD Molecules Nomenclature 2025: Antibody Validation and Expression Profiling of Immune System G Protein-Coupled Receptors.

Journal: European journal of immunology

Published: June 17, 2025

Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: May 06, 2024

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.

Journal: Nature communications

Published: August 30, 2022

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

Journal: American journal of hematology

Published: December 23, 2021

Pancreatitis-associated protein as an early marker of asparaginase-associated pancreatitis.

Pancreatitis-associated protein as an early marker of asparaginase-associated pancreatitis.

Journal: Leukemia & lymphoma

Published: August 09, 2021

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

Journal: Blood

Published: April 11, 2020

Molecular Basis of Cisplatin Resistance in Testicular Germ Cell Tumors.

Molecular Basis of Cisplatin Resistance in Testicular Germ Cell Tumors.

Journal: Cancers

Published: June 10, 2019

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Journal: Frontiers in immunology

Published: January 23, 2019

Molecular Pathogenesis of Testicular Germ Cell Tumors

Molecular Pathogenesis of Testicular Germ Cell Tumors

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: December 23, 2017

CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells.

CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells.

Journal: International journal of molecular sciences

Published: May 12, 2017

Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors.

Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors.

Journal: Cancer letters

Published: December 22, 2015

Homeobox gene expression in acute myeloid leukemia is linked to typical underlying molecular aberrations.

Homeobox gene expression in acute myeloid leukemia is linked to typical underlying molecular aberrations.

Journal: Journal of hematology & oncology

Published: September 18, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026