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A cells
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Patricia Norambuena
Person without affiliation with CUNI
6 publications
Publications
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
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
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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