Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry ; volume:16 ; number:1 ; day:2 ; month:10 ; year:2021 ; pages:1-12 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (2.10.2021), 1-12, 12.2021

Creator: Yiallouros, Panayiotis K.
Matthaiou, Andreas Μ
Anagnostopoulou, Pinelopi
Kouis, Panayiotis
Libik, Malgorzata
Adamidi, Tonia
Eleftheriou, Adonis
Demetriou, Artemios
Ioannou, Phivos
Tanteles, George A.
Costi, Constantina
Fanis, Pavlos
Macek, Milan
Neocleous, Vassos
Phylactou, Leonidas A.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-021-02049-z

URN: urn:nbn:de:101:1-2021122019224750939910

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 10.04.2032, 12:27 AM CEST

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Associated

Yiallouros, Panayiotis K.
Matthaiou, Andreas Μ
Anagnostopoulou, Pinelopi
Kouis, Panayiotis
Libik, Malgorzata
Adamidi, Tonia
Eleftheriou, Adonis
Demetriou, Artemios
Ioannou, Phivos
Tanteles, George A.
Costi, Constantina
Fanis, Pavlos
Macek, Milan
Neocleous, Vassos
Phylactou, Leonidas A.
SpringerLink (Online service)

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Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

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Other Objects (12)

CF Fungal Disease in the Age of CFTR Modulators

From CFTR to a CF signalling network: a systems biology approach to study Cystic Fibrosis

What can the CF registry tell us about rare CFTR-mutations? A Belgian study

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The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis

Comparative effects of CFTR modulators on phagocytic, metabolic and inflammatory profiles of CF and nonCF macrophages

The CF 3 Group as a Synthon of the CF + Unit in Palladium Chemistry

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Sweat rate analysis of ivacaftor potentiation of CFTR in non-CF adults

Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study

Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators

The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis

Comparative effects of CFTR modulators on phagocytic, metabolic and inflammatory profiles of CF and nonCF macrophages

The CF 3 Group as a Synthon of the CF + Unit in Palladium Chemistry

The CF 3 Group as a Synthon of the CF + Unit in Palladium Chemistry

The cystic fibrosis transmembrane conductance regulator (CFTR) and its stability

Sweat rate analysis of ivacaftor potentiation of CFTR in non-CF adults

Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis

CF

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From CFTR to a CF signalling network: a systems biology approach to study Cystic Fibrosis

What can the CF registry tell us about rare CFTR-mutations? A Belgian study

Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators

The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis

Comparative effects of CFTR modulators on phagocytic, metabolic and inflammatory profiles of CF and nonCF macrophages

The CF 3 Group as a Synthon of the CF + Unit in Palladium Chemistry

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