Miroslava Balascakova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 14 publications

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia

Published: August 27, 2026

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

Journal: Molecular genetics & genomic medicine

Published: May 09, 2025

Genetic and Structural Variations in Czech Patients With Congenital Myopathies.

Genetic and Structural Variations in Czech Patients With Congenital Myopathies.

Journal: Clinical genetics

Published: April 01, 2025

NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis.

NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis.

Journal: Klinische Padiatrie

Published: March 17, 2023

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review.

Journal: Frontiers in pediatrics

Published: March 16, 2023

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.

Journal: Epilepsia open

Published: October 06, 2022

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.

Journal: Nature communications

Published: August 30, 2022

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Journal: Neurology. Genetics

Published: June 14, 2022

Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.

Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.

Journal: Italian journal of pediatrics

Published: May 27, 2022

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Journal: Annals of human genetics

Published: December 31, 2019

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

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

Showing 1-12 of 14

Last Updated: 09/26/2026