Search Results - "Satsuk, N"
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Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277), described for the first time
Published in Gene (30-11-2020)“…•The study results showed c.831G>A in the genotype matches to the severe course of CF.•Using ICM, FIS assay in intestinal organoids confirmed the absence of…”
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230 Characterization of the lung function in CF infants, based on the data from the Russian CF register 2014
Published in Journal of cystic fibrosis (01-06-2017)Get full text
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253 The health status of children with cystic fibrosis in the Russian Federation according to the Registry in 2013
Published in Journal of cystic fibrosis (01-06-2016)Get full text
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259 National cystic fibrosis patients Registry of Russia (RCFPR) in 2014
Published in Journal of cystic fibrosis (01-06-2016)Get full text
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6 Peculiarities of mutation spectrum and frequency of CFTR gene in Russian Federation according to the Registry data in 2013
Published in Journal of cystic fibrosis (01-06-2016)Get full text
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308 National Cystic Fibrosis Patients Registry of Russia (RCFPR) in 2012
Published in Journal of cystic fibrosis (01-06-2015)“…The aim is to present data collected in 2012. Methods In 2012 RCFPR included data of 1309 (697 M) patients from 26 regions while in 2011 – 17 regions and 1015…”
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P104 The dynamics of health of children with cystic fibrosis in Russian Federation according to the registry data during last 10 years
Published in Journal of cystic fibrosis (01-06-2023)Get full text
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P067 The main characteristics of cystic fibrosis patients: National Patient Registry of Russia (RCFPR) 2020
Published in Journal of cystic fibrosis (01-06-2022)Get full text
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EPS2.06 Phenotypic manifestations of rare missense mutations
Published in Journal of cystic fibrosis (01-06-2018)Get full text
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