Darina Prchalová

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 80 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biomarkers of Brain Damage: S100B and NSE Concentrations in Cerebrospinal Fluid—A Normative Study

Lenka Hajduková, Ondřej Sobek, Darina Prchalová et al. · BioMed Research International · 2015 · 76 citations · Full text

Life Sciences, Neurology, Neuroscience +13

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Hanneke A. Haijes, Maria J.E. Koster, Holger Rehmann et al. · The American Journal of Human Genetics · 2019 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon et al. · European Journal of Human Genetics · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17