Felix Votava

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 14 publications

21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.

21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.

Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

Published: October 02, 2024

Iodine supply and thyroid function in women with gestational diabetes mellitus: a cohort study.

Iodine supply and thyroid function in women with gestational diabetes mellitus: a cohort study.

Journal: Endocrine connections

Published: June 18, 2024

The Immunological Epigenetic Landscape of the Human Life Trajectory.

The Immunological Epigenetic Landscape of the Human Life Trajectory.

Journal: Biomedicines

Published: October 07, 2022

Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.

Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.

Journal: Minerva pediatrics

Published: June 09, 2020

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

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

Journal: Central European journal of public health

Published: June 28, 2018

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.

Journal: European journal of pediatrics

Published: May 03, 2018

Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.

Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.

Journal: Genes, chromosomes & cancer

Published: February 20, 2018

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: January 11, 2016

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

Journal: BMC pulmonary medicine

Published: June 06, 2014

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

Journal: PloS one

Published: June 04, 2014

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: December 01, 2012

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.

Journal: Clinical endocrinology

Published: February 09, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026