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Search for publications relevant for "isodisomy"
isodisomy
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publication
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
2017 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy
2018 |
Second Faculty of Medicine
publication
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
2009 |
Second Faculty of Medicine
publication
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
2010 |
Second Faculty of Medicine
publication
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
2020 |
First Faculty of Medicine