Disease: Corpus callosum dysgenesis X-linked recessive
- A novel NONO nonsense variant in a fetus with renal abnormalities
- Aicardi syndrome: a case report
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
- Diffuse malformations of cortical development
- Duplication of 10q24 locus: broadening the clinical and radiological spectrum
- Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing
- Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern
- Genetic heterogeneity in corpus callosum agenesis
- Genetics of hereditary spastic paraplegias
- Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age
- Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting
- Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
- Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
- Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China
- Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2