Eva Al Taji

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

Eva Al Taji, Heike Biebermann, Z Límanová et al. · European Journal of Endocrinology · 2007 · 105 citations

Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations

Karolína Banghová, Eva Al Taji, Ondřej Cinek et al. · European Journal of Pediatrics · 2007 · 39 citations

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +5

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Jan David, Petr Chrastina, Karolína Pešková et al. · Central European Journal of Public Health · 2019 · 26 citations · Full text

Use of vitamin D supplements during infancy in an international feeding trial

Eveliina Lehtonen, Anne Ormisson, Anita Nucci et al. · Public Health Nutrition · 2013 · 10 citations · Full text