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hemizygous deletions
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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
2006 |
Second Faculty of Medicine
publication
Genome Fractionation and Loss of Heterozygosity in Hybrids and Polyploids: Mechanisms, Consequences for Selection, and Link to Gene Function
2021 |
Faculty of Science, Central Library of Charles University
publication
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case
1999 |
Second Faculty of Medicine
publication
Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature
2013 |
Publication without faculty affiliation