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cystic fibrosis transmembrane conductance regulator
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prof. MUDr. Olga Hníková CSc.
Academic staff at Third Faculty of Medicine
26 publications
Publications
publication
Pediatrická propedeutika
2019 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
7 Neonatal screening
2019 |
Third Faculty of Medicine
publication
Zkušenosti z monitorování jódov ého zásobení novorozenecké populace v ČR
2016 |
Third Faculty of Medicine
publication
Long-term experience from iodine intake monitoring in neonatal population in the Czech Republic
2014 |
Third Faculty of Medicine
publication
Thyroid disorders in childhood and adolescence
2014 |
Third Faculty of Medicine
publication
Pendred syndrome in patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurence of phenocopies
2008 |
Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
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
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
anamnézy; defekt jednoho genu
2006 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Physical Education and Sport
publication
Boy Matyaš, whose thyroid gland stoped growing
2006 |
First Faculty of Medicine, Third Faculty of Medicine
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