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syndromu
Person
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Person
Publication
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MUDr. Ivan Šubrt Ph.D.
Academic staff at Faculty of Medicine in Pilsen
2 classes
76 publications
Classes
class
Clinical Genetics
E0110039 |
Faculty of Medicine in Pilsen
class
Medical Genetics
EA0110039 |
Faculty of Medicine in Pilsen
Publications
publication
Growth disorders due to rearrangement of SHOX gene locus
2019 |
Faculty of Medicine in Pilsen
publication
Léri-Weill Syndrome on the Principle of Structural Aberration of Chromosome Y (Case Report)
2018 |
Faculty of Medicine in Pilsen
publication
Nález patogenní varianty genu PALB2 v rodině sledované pro nefrogenní diabetes insipidus
2018 |
Faculty of Medicine in Pilsen
publication
Benefits of targeted sequencing in noninvasive prenatal testing
2017 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Growth disorder in a Vietnamese girl with Turner syndrome and with an uncommon cytogenetic finding
2014 |
Faculty of Medicine in Pilsen, First Faculty of Medicine
publication
Surprising diagnosis of a rare endocrine disease when examining a child for short stature
2014 |
Faculty of Medicine in Pilsen
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Faculty of Medicine in Pilsen
publication
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
2024 |
Faculty of Medicine in Pilsen
publication
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
2023 |
Central Library of Charles University, Faculty of Medicine in Pilsen, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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