Miroslava Balaščáková

发表

Correlation between Genetic and Geographic Structure in Europe

Christian Gieger, Jaume Bertranpetit, Michael Krawczak, 2008, Current Biology.

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

M. Turnovec, Miroslava Balaščáková, J. Čopíková, 2020, Annals of human genetics.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

P. Lebecque, A. Azad, M. Schwartz, 2009, Human mutation.

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

K. Štěrbová, Miroslava Balaščáková, A. Křepelová, 2023, Italian Journal of Pediatrics.

Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease.

M. Macek, P. Dřevínek, Miroslava Balaščáková, 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

S. Pittaluga, E. Meffre, S. Hewitt, 2022, Nature Communications.

Genetic Testing for Malformations of Cortical Development

P. Krsek, P. Marusic, A. Musilová, 2022, Neurology: Genetics.

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

C. Gieger, A. Hofman, A. Uitterlinden, 2009, European Journal of Human Genetics.

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

O. Sommerburg, M. Macek, J. Hammermann, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

M. Macek, M. Turnovec, Miroslava Balaščáková, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

M. Muckenthaler, M. Gahr, O. Sommerburg, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

Miroslava Balaščáková, J. Zieg, P. Kubuš, 2023, Frontiers in Pediatrics.

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

P. Krsek, A. Musilová, Miroslava Balaščáková, 2022, Epilepsia open.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

M. Macek, Miroslava Balaščáková, T. Piskáčková, 2012, European Journal of Pediatrics.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

Report Correlation between Genetic and Geographic Structure in Europe

C. Gieger, T. Werge, M. Nothnagel, 2008 .

Report and Geographic Structure in Europe

C. Gieger, T. Werge, M. Nelson, 2022 .