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- Pituitary Gland Duplication Syndrome: An International Imaging Analysis
- Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study
- Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities
- Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder
- Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes
- A transposase-derived gene required for human brain development
- A transposase-derived gene required for human brain development
- Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
- Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
- Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
- Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results
- Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
- Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
- CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- Biometry of the Cerebellar Vermis and Brain Stem in Children: MR Imaging Reference Data from Measurements in 718 Children
- Persisting Embryonal Infundibular Recess in Morning Glory Syndrome: Clinical Report of a Novel Association
- A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features