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Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements
2021 |
First Faculty of Medicine
publication
Alu insertion polymorphisms in the African Sahel and the origin of Fulani pastoralists
2017 |
Faculty of Science
publication
Detection of two Alu insertions in the CFTR gene
2008 |
Second Faculty of Medicine
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
First Faculty of Medicine
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Deletions in the 3 ' Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
2014 |
Second Faculty of Medicine
publication
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
2010 |
Second Faculty of Medicine
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
Second Faculty of Medicine
publication
Repeat associated mechanisms of genome evolution and function revealed by the &ITMus caroli&IT and &ITMus pahari&IT genomes
2018 |
Faculty of Science
publication
The Evolutionary Landscape of Human Genome Vocabulary
2015 |
Faculty of Science
publication
Comparison of fluorometric and real-time PCR quantification of DNA extracted from formalin fixed tissue
2017 |
Second Faculty of Medicine
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
First Faculty of Medicine
publication
Molecular and Physical Characterization of the Complex Pericentromeric Heterochromatin of the Vole Species Microtus thomasi
2014 |
Faculty of Science
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine