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X-CHROMOSOME
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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene
2013 |
First Faculty of Medicine
publication
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
2013 |
First Faculty of Medicine
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 |
First Faculty of Medicine
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Hepatology
2022 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease: A review
2022 |
First Faculty of Medicine
publication
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient
2021 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Bilateral Amyloidosis of Three Eyelids. A Case Report
2021 |
Third Faculty of Medicine, Central Library of Charles University
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