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homozygous deletion
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publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Genetics of spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
Mitochondrial Tumor Suppressors - The Energetic Enemies of Tumor Progression
2021 |
Faculty of Science
publication
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
2007 |
Second Faculty of Medicine
publication
Significance of real-time quantitative polymerase chain reaction detection of p16 gene deletions in childhood acute lymphoblastic leukemia
2002 |
Second Faculty of Medicine
publication
Aggressive acute myeloid leukemia in PU.1/p53 double-mutant mice
2014 |
First Faculty of Medicine
publication
MAP2K1-mutated melanocytic neoplasms with a SPARK-like morphology
2021 |
Faculty of Medicine in Pilsen
publication
Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
2014 |
First Faculty of Medicine
publication
Dysplastic lipoma: potential diagnostic pitfall of using MDM2 RNA in situ hybridization to distinguish between lipoma and atypical lipomatous tumor
2020 |
Faculty of Medicine in Pilsen
publication
Delineating aggressiveness of acute myeloid leukemia in a mouse model carrying mutations of Spi1 (PU.1) and Trp53
Publication without faculty affiliation
publication
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
2014 |
Second Faculty of Medicine
publication
Sideroblastic anemia associated with multisystem mitochondrial disorders
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
GEI-8, a Homologue of Vertebrate Nuclear Receptor Corepressor NCoR/SMRT, Regulates Gonad Development and Neuronal Functions in Caenorhabditis elegans
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma
2021 |
Second Faculty of Medicine
publication
Biomarker immunoprofile and molecular characteristics in salivary duct carcinoma: clinicopathological and prognostic implications
2019 |
Faculty of Medicine in Pilsen
publication
Outcomes of BRAF V600E Pediatric Gliomas Treated With Targeted BRAF Inhibition
2020 |
Second Faculty of Medicine