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MUTATIONS
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MUDr. Eva El-Lababidi Ph.D.
Academic staff at Third Faculty of Medicine
46 publications
Publications
publication
Pendred syndrome in patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurence of phenocopies
2008 |
Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine
publication
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations
2008 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene
2008 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
2007 |
Third Faculty of Medicine
publication
Pendrin and its role in the pathogenesis of congenital hypothyroidism and other diseases
2006 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome
2004 |
Third Faculty of Medicine
publication
Thyroid dysgenesis: current knowledge of the role of transcription factors in the pathogenesis of congenital hypothyroidism
2002 |
Third Faculty of Medicine
publication
Pubertal growth in children born small for gestational age (SGA) with persistent short stature (SGA-SS). Growth hormone treatment outcomes from data of the Czech countrywide REPAR database
2023 |
Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Pharmacy in Hradec Králové
publication
Adult height in children born small for gestational age (SGA) with persistent short stature (SGA-SS). Growth hormone treatment outcomes from data of the Czech countrywide REPAR database
2023 |
Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Prevalence of iodine deficiency among vegan compared to vegetarian and omnivore children in the Czech Republic: cross-sectional study
2023 |
Third Faculty of Medicine
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