Search Results - "Jaros, Zdenek"
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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Published in American journal of human genetics (06-02-2020)“…We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in…”
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Journal Article -
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Low mortality and short‐term morbidity in very preterm infants in Austria 2011–2016
Published in Acta Paediatrica (01-08-2019)“…Aim The current study determined survival, short‐term neonatal morbidity and predictors for death or adverse outcome of very preterm infants in Austria…”
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Journal Article