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panel sequencing
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Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
2021 |
Second Faculty of Medicine
publication
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
2020 |
First Faculty of Medicine, Central Library of Charles University
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
CZECANCA: CZEch CAncer paNel for Clinical Application - Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republi
2016 |
First Faculty of Medicine
publication
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 |
Second Faculty of Medicine
publication
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
2016 |
First Faculty of Medicine
publication
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
2017 |
Second Faculty of Medicine
publication
LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients
2023 |
Second Faculty of Medicine