Javier Sanz

Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

Nico Derichs, Javier Sanz, Thomas von Känel et al. · Thorax · 2010 · 140 citations · Full text

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutatedCFTR Alleles

Bernhard Steiner, Kaspar Truninger, Javier Sanz et al. · Human Mutation · 2004 · 53 citations

Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka, Abigail Bennington, Martin J. Baker et al. · Brain · 2022 · 41 citations · Full text

Functional expression of connexin30 and connexin31 in the polarized human airway epithelium

Ludovic Wiszniewski, Javier Sanz, Isabelle Scerri et al. · Differentiation · 2007 · 31 citations

Inflammation, Tracheobronchitis, Signal Transduction +7

Detection of Exon Deletions within an Entire Gene (CFTR) by Relative Quantification on the LightCycler

Mircea Schneider, Franziska Joncourt, Javier Sanz et al. · Clinical Chemistry · 2006 · 25 citations