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Nucleic Acids Research|December 1, 2006
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwideSjozef van Baal, Polynikis Kaimakis, Manyphong Phommarinh, et al.
The Journal of Physiology|March 3, 2010
A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibitionRobert Rauh, Alexei Diakov, Anja Tzschoppe, et al.
The Journal of Molecular Diagnostics : JMD|October 5, 2012
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencingGeneviève Michils, Silke Hollants, Luc Dehaspe, et al.
American Journal of Respiratory and Critical Care Medicine|April 10, 2010
Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary diseaseWim Janssens, Hilde Nuytten, Lieven J Dupont, et al.
Journal of Hepatology|November 11, 2008
Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitisLiesbet Henckaerts, Martine Jaspers, Werner Van Steenbergen, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 25, 2017
Ethnicity impacts the cystic fibrosis diagnosis: A note of cautionBarbara Bosch, Diana Bilton, Patrick Sosnay, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|January 8, 2010
Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosisRegina Huber, Bettina Krueger, Alexei Diakov, et al.
Human Genetics|February 8, 2006
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosisFrauke Stanke, Tim Becker, Harry Cuppens, et al.
Orphanet Journal of Rare Diseases|January 24, 2014
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructureMieke Boon, Anne Smits, Harry Cuppens, et al.
Genomics|April 12, 2005
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populationsAnne Vankeerberghen, Olga Scudiero, Kris De Boeck, et al.
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