High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European journal of …, 2007 - academic.oup.com
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - cir.nii.ac.jp
抄録< jats: p>< jats: italic> Objective</jats: italic>: Pendred syndrome (PS) is characterized
by the association of sensorineural hearing loss (SNHL) and a partial iodide organification …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - europepmc.org
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola - European Journal of Endocrinology, 2007 - search.ebscohost.com
OBJECTIVE: Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European journal …, 2007 - pubmed.ncbi.nlm.nih.gov
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

[PDF][PDF] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - researchgate.net
Objective: Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

[PDF][PDF] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - academia.edu
Objective: Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

[PDF][PDF] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - Citeseer
Objective: Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

[引用][C] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L FUGAZZOLA, V CIRELLO… - European journal of …, 2007 - pascal-francis.inist.fr
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel
duplication in the SLC26A4 gene : clinical characterization and functional studies of the …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European Journal of …, 2007 - hero.epa.gov
Pendred syndrome (PS) is characterized by the association of sensorineural hearing loss
(SNHL) and a partial iodide organification defect at the thyroid level. It is caused by …