Search Results - "Oostra, Anna"
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1
Apparent diffusion coefficient values of the white matter in magnetic resonance imaging of the neonatal brain may help predict outcome in congenital cytomegalovirus infection
Published in Pediatric radiology (01-02-2024)“…Background White matter change is a well-known abnormality in congenital cytomegalovirus (cCMV) infection, but grading remains challenging and clinical…”
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2
Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
Published in Clinical genetics (01-03-2021)“…Pathogenic variants in the RBM10 gene cause a rare X‐linked disorder described as TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and…”
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Antenatal corticosteroids-to-birth interval in preterm birth
Published in Acta clinica belgica (English ed. Online) (01-12-2021)“…Objectives: The purpose of this study was to compare short-term outcomes in children born between 24 and 34 weeks' gestation, according to observed antenatal…”
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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Published in Genetics in medicine (01-12-2023)“…ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2…”
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