Jana Behunova

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Katharina Schoner, Martina Witsch‐Baumgartner, Jana Behunova et al. · Birth Defects Research · 2019 · 21 citations · Full text

Developmental Anomaly, Urology, Developmental Biology +14

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Dóra Nagy, Sarah Verheyen, Kristen Wigby et al. · Genes · 2022 · 19 citations · Full text

<i>Methylenetetrahydrofolate reductase</i> gene polymorphisms and neural tube defects epidemiology in the Slovak population

Jana Behunova, Lucia Klimčáková, Eva Zavadilikova et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2010 · 16 citations

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2

Lenka Šlachtová, Ond⊘řej Šeda, Jana Behunova et al. · European Journal of Human Genetics · 2015 · 16 citations · Full text

Genetic Disorder, Genetics, Inherited Metabolic Disease +12