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Open access

Case report

First published 2019

Recurrent Cough and Expectoration for 10 Years: A Case Report

Ting Huang, Caihong Li, Daishun Liu

Sage Open Pediatrics

Open access

Case report

First published 2023

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease

Tinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili [...]

Sage Open Medical Case Reports

Free access

Research article

First published 2015-12

Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening

Steven V. Molinski, Saumel Ahmadi, Maurita Hung [...]

Journal of Biomolecular Screening

Retricted access

Case report

First published 2015-03

Phenotypic Heterogeneity in a Cystic Fibrosis Family and the “Pseudomonas Dilemma”

Donatello Salvatore, Carmela Colangelo, Paola Nardiello [...]

Pediatric Allergy,Immunology,and Pulmonology

Open access

Case report

First published 2025

Unmasking Cystic Fibrosis in Adulthood,a Case Report

Malina Mohtadi, Ruba Habib, Abraam Rezkalla [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Case report

First published 2024

Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers

Amin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh [...]

Therapeutic Advances in Respiratory Disease

Retricted access

Case report

First published 2025-9

Nonvisualization of the Fetal Gallbladder: A Portuguese Case Series From a Tertiary Medical Center

Joana Mafra, Filipa Nunes, Miguel Branco [...]

Journal of Diagnostic Medical Sonography

Free access

Research article

First published 2014-11

Cystic Fibrosis Transmembrane Conductance Regulator Protein (CFTR) Expression in the Developing Human Brain

Pascale Marcorelles, Gaëlle Friocourt, Arnaud Uguen [...]

Journal of Histochemistry & Cytochemistry

Retricted access

Research article

First published 1998-1

High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin

Limor Shahrabani-Gargir, Ruth Shomrat, Yuval Yaron [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2022

Personalized medicine with drugs targeting the underlying protein defect in cystic fibrosis: is monitoring of treatment response necessary?

Katharina Niedermayr, Verena Gasser, Claudia Rueckes-Nilges [...]

Sage Open Chronic Disease

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