O Hníková

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

Medicine, Endocrinology, Genetics +17

Guidelines for neonatal screening programmes for congenital hypothyroidism

Annette Grüters, François Delange, G Giovannelli et al. · European Journal of Pediatrics · 1993 · 43 citations

Medicine, Endocrinology, Pediatrics +14

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

Medicine, Endocrinology, Molecular Genetics +14

Microdensitometric Identification of the Pericentric Inversion of Chromosome No. 2 and of Duplication of the Short Arm of Chromosome No. 7 in a Reexamined Case

Ivan Šubrt, J Kozák, O Hníková · Human Heredity · 1973 · 24 citations

Life Sciences, Genetics, Molecular Genetics +17

Guidelines for Neonatal Screening Programs for Congenital Hypothyroidism

F Delange, G Giovannelli, M Klett et al. · Hormone Research · 2008 · 14 citations

Medicine, Endocrinology, Pediatrics +14