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disease spectrum
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A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Pediatric Precursor B-Cell Lymphoblastic Malignancies: From Extramedullary to Medullary Involvement
2022 |
Second Faculty of Medicine
publication
Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases
2016 |
First Faculty of Medicine
publication
Turner syndrome and anomalies of the aortic arch in four different ways
2018 |
Publication without faculty affiliation
publication
Anakinra
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Pustular psoriasis and related pustular skin diseases
2018 |
Faculty of Medicine in Pilsen
publication
Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group
2021 |
Second Faculty of Medicine
publication
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
2012 |
Second Faculty of Medicine
publication
Central Asian rodents as model animals for Leishmania major and Leishmania donovani research
2020 |
Faculty of Science
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
2016 |
First Faculty of Medicine
publication
European expert consensus statement on therapeutic goals in Fabry disease
2018 |
First Faculty of Medicine
publication
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
2020 |
Second Faculty of Medicine
publication
Blood transcriptome responses in patients correlate with severity of COVID-19 disease
2023 |
Faculty of Medicine in Pilsen
publication
Comparative Outcomes of Primary Versus Recurrent High-risk Non-muscle-invasive and Primary Versus Secondary Muscle-invasive Bladder Cancer After Radical Cystectomy: Results from a Retrospective Multicenter Study
2022 |
Second Faculty of Medicine