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Search for publications relevant for "nephronophthisis"
nephronophthisis
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Person
Publication
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publication
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations
2010 |
Second Faculty of Medicine
publication
Primary cilia of renal tubular epithelial cells
2013 |
Faculty of Medicine in Hradec Králové
publication
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
2015 |
First Faculty of Medicine
publication
Hypertension in children with cystic kidney diseases
2006 |
Second Faculty of Medicine
publication
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Eva Seemanova 80 Years - International Medical Genetics, Prague 1971-2016
2019 |
Second Faculty of Medicine