2023

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

  TRIZULJAK Jakub DUBEN Jakub BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina ŠTIKA Jiří RADOVÁ Lenka BERGEROVÁ Veronika MEJSTŘÍKOVÁ Soňa HOŘÍNOVÁ Věra JANČÁLEK Radim POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  Molecular Syndromology, year: 2023, volume: 14, edition: 5, DOI

• Rozsáhlá delece 22q12 u pacienta s oboustranným Schwannomem, mentální retardací, percepční sluchovou poruchou a epilepsií.

  TRIZULJAK Jakub DUBEN Jakub BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina ŠTIKA Jiří RADOVÁ Lenka BERGEROVÁ Veronika MEJSTŘÍKOVÁ Soňa HOŘÍNOVÁ Věra JANČÁLEK Radim POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2023, type: Conference abstract

2020

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

  TRIZULJAK Jakub PETRUCHOVÁ Terezie BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana HORINOVA Vera DOUBKOVÁ Martina MICHALKA Jozef MAYER Jiří POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  Molecular Syndromology, year: 2020, volume: 11, edition: 2, DOI

• Functional testing of gene variants in inherited thrombocytopenias.

  SKALNÍKOVÁ Magdalena STAŇO KOZUBÍK Kateřina PEŠOVÁ Michaela VRZALOVÁ Zuzana TRIZULJAK Jakub RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2020, type: Conference abstract

• Uncovering rare hematological entities: Shwachman-Diamond syndrome in a pair of siblings with neutropenia and recurrent infections.

  TRIZULJAK Jakub VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2020, type: Conference abstract

2019

• A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia

  STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub PEŠOVÁ Michaela PÁL Karol RÉBLOVÁ Kamila RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2019, type: Conference abstract

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

  DOUBKOVÁ Martina STAŇO KOZUBÍK Kateřina RADOVÁ Lenka PEŠOVÁ Michaela TRIZULJAK Jakub PÁL Karol SVOBODOVÁ Klára RÉBLOVÁ Kamila SVOZILOVÁ Hana VRZALOVÁ Zuzana POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI

• A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy

  TRIZULJAK Jakub DOUBKOVÁ Martina HRAZDIROVÁ Anna VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2019, type: Conference abstract

• Familial leukemia associated with thrombocytopenia

  TRIZULJAK Jakub DOUBEK Michael

  Chapter of a book

  Germ Line Mutations Associated Leukemia, year: 2019, number of pages: 16 s.

• Characterization of causal variants associated with hereditary thrombocytopenias.

  VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka TRIZULJAK Jakub POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2019, type: Conference abstract