MUDr. Jana Šoukalová
Assistant professor, Institute of Medical Genetics and Genomics
Phone: | +420 532 23 4249 |
---|---|
E‑mail: |
Total number of publications: 24
2023
-
Genetic findings in Czech patients with limb girdle muscular dystrophy
Clinical Genetics, year: 2023, volume: 104, edition: 5, DOI
2022
-
Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation
EPILEPSY & BEHAVIOR, year: 2022, volume: 128, edition: March 2022, DOI
-
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
Clinical Oral Investigations, year: 2022, volume: 26, edition: 12, DOI
2020
-
Cytogenetické a molekulárně genetické nálezy u pacientky s ICF2 syndromem - kazuistika
Year: 2020, type: Conference abstract
-
The clinical utility of targeted NGS in neurodevelopmental disorders: a case of a girl with pontocerebellar hypoplasia caused by TSEN54 gene pathogenic variants
Year: 2020, type: Conference abstract
2019
-
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement
Frontiers in Immunology, year: 2019, volume: 10, edition: SEP 18 2019, DOI
2018
-
Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia
PLOS ONE, year: 2018, volume: 13, edition: 9, DOI
-
Tuberózní skleróza - od diagnostiky dítěte k terapii rodiče
Year: 2018, type: Conference abstract
2017
-
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene
BMC Cancer, year: 2017, volume: 17, edition: 119, DOI
-
The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant
Year: 2017, type: Conference abstract