Stephanie Libzon

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

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Found 18 publications

MRI Pattern with a Distinctive Cerebellar Signature in VPS11-Related Hypomyelinating Leukodystrophy: A Comparative Cohort Study.

MRI Pattern with a Distinctive Cerebellar Signature in VPS11-Related Hypomyelinating Leukodystrophy: A Comparative Cohort Study.

Journal: AJNR. American journal of neuroradiology

Published: March 30, 2026

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Journal: Molecular genetics and metabolism

Published: March 16, 2026

Fetal magnetic resonance imaging features of syndromic megalencephaly: a systematic review of imaging-genotype associations.

Fetal magnetic resonance imaging features of syndromic megalencephaly: a systematic review of imaging-genotype associations.

Journal: Pediatric radiology

Published: March 07, 2026

Developmental venous anomalies on fetal magnetic resonance imaging: prevalence and reproducible radiological phenotypes.

Developmental venous anomalies on fetal magnetic resonance imaging: prevalence and reproducible radiological phenotypes.

Journal: Pediatric radiology

Published: February 08, 2026

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

Journal: International journal of molecular sciences

Published: May 23, 2025

Antenatal subpial hemorrhage diagnosed by fetal magnetic resonance imaging: imaging spectrum and autopsy findings.

Antenatal subpial hemorrhage diagnosed by fetal magnetic resonance imaging: imaging spectrum and autopsy findings.

Journal: Pediatric radiology

Published: May 06, 2025

Blood Pressure Profile in Pediatric Moyamoya: Longitudinal Analysis and Revascularization Impact.

Blood Pressure Profile in Pediatric Moyamoya: Longitudinal Analysis and Revascularization Impact.

Journal: Pediatric neurology

Published: March 24, 2025

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic.

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic.

Journal: Developmental medicine and child neurology

Published: October 28, 2024

Clinical and neuroimaging patterns of perinatal intracranial haemorrhage in fetuses and term-born neonates: a prospective observational cohort study.

Clinical and neuroimaging patterns of perinatal intracranial haemorrhage in fetuses and term-born neonates: a prospective observational cohort study.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: April 09, 2024

Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.

Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.

Journal: Developmental medicine and child neurology

Published: March 04, 2024

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study.

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study.

Journal: Developmental medicine and child neurology

Published: January 29, 2024

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Journal: Journal of medical genetics

Published: January 08, 2024

Showing 1-12 of 18

Last Updated: 09/26/2026