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Maturity Onset Diabetes of the Young
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Ing. Magdaléna Neřoldová
External person at Central Library of Charles University
14 publications
Publications
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk
2021 |
Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall
2020 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
Progressive familial intrahepatic cholestasis in adulthood: 60 years' follow-up
2020 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Donor PNPLA3 and TM6SF2 Variant Alleles Confer Additive Risks for Graft Steatosis After Liver Transplantation
2020 |
Central Library of Charles University
publication
IL28B rs12979860 T allele protects against CMV disease in liver transplant recipients in the post-prophylaxis and late period
2019 |
Central Library of Charles University, First Faculty of Medicine
publication
PNPLA3 rs738409 G allele carriers with genotype 1b HCV cirrhosis have lower viral load but develop liver failure at younger age
2019 |
First Faculty of Medicine
publication
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
Central Library of Charles University, First Faculty of Medicine
publication
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
2016 |
Central Library of Charles University, First Faculty of Medicine
publication
Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci
2016 |
Central Library of Charles University, First Faculty of Medicine
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