Darina Prchalová

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 · 74 citations · Full text

Traumatic Brain Injury, Pathology, Cns Injury +19

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

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 72 citations · Full text

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 · 69 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +13

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 · 59 citations · Full text

Dominant Variants, Mendelian Disorder, Genetic Disorder +8

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 · 57 citations · Full text