Jakub Trizuljak

Brno, JM, Czech Republic

Last Updated: 09/26/2026

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Found 15 publications

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Journal: Platelets

Published: August 30, 2024

Real-World Data From a Molecular Tumor Board-Assisted Cancer Care From a Single Center in The Czech Republic: Is Precision Oncology an Accessible Option, or a Privilege for a Minority of Patients?

Real-World Data From a Molecular Tumor Board-Assisted Cancer Care From a Single Center in The Czech Republic: Is Precision Oncology an Accessible Option, or a Privilege for a Minority of Patients?

Journal: Cancer medicine

Published: July 02, 2024

A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.

A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.

Journal: British journal of haematology

Published: May 14, 2024

Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.

Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.

Journal: Mutagenesis

Published: January 16, 2024

Molecular testing of endometrial carcinoma in real-world clinical practice.

Molecular testing of endometrial carcinoma in real-world clinical practice.

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: June 23, 2023

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.

Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.

Journal: Molecular syndromology

Published: October 13, 2022

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.

Journal: International journal of molecular sciences

Published: November 30, 2021

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.

Journal: Molecular syndromology

Published: February 18, 2020

Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification.

Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification.

Journal: Allergy

Published: October 14, 2019

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Journal: BMC pulmonary medicine

Published: May 22, 2019

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.

Journal: Human genome variation

Published: November 10, 2018

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

Journal: Platelets

Published: October 18, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026