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Last Updated: 10/31/2025
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Found 136 publications
Spatial proteomics reveals distinct protein patterns in cortical migration disorders caused by LIN28A overexpression and WNT activation.
Journal: Molecular & cellular proteomics : MCP
Published: October 02, 2024
The fetal neurologist: Strategies to improve training, practice, and clinical care.
Journal: Developmental medicine and child neurology
Published: August 17, 2024
Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus.
Journal: Radiology case reports
Published: March 28, 2024
Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review.
Journal: Radiology case reports
Published: February 25, 2024
Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant.
Journal: Neuropathology and applied neurobiology
Published: June 02, 2023
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Journal: Brain communications
Published: May 29, 2023
Diagnostic work-up in malformations of cortical development.
Journal: Developmental medicine and child neurology
Published: May 01, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Journal: American journal of medical genetics. Part A
Published: April 17, 2023
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
Journal: Prenatal diagnosis
Published: February 05, 2023
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
Journal: Fetal and pediatric pathology
Published: September 01, 2022
Fetal Brain Development: Regulating Processes and Related Malformations.
Journal: Life (Basel, Switzerland)
Published: April 21, 2022
Last Updated: 10/31/2025