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chromosome rearrangements
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Patricia Norambuena
Person without affiliation with CUNI
6 publications
Publications
publication
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy
2019 |
Second Faculty of Medicine
publication
Clinical utility of FLNC variants identified in 4 young Czech people with sudden cardiac arrest for clinical management of their at risk relatives
+1
2019 |
Second Faculty of Medicine
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine
publication
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
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