• A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a
• A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism
• A Rare Case of Granular Cell Tumor in the Right Upper Lung of an Adolescent Patient
• Congenital melanocytic naevi: An up-to-date overview
• Detection of the novel cell adhesion molecule MUC18 in human brain tissue
• Disruption of a ciliary B9 protein complex causes Meckel syndrome
• Expression of indian hedgehog, bone morphogenetic protein 6 and gli during skeletal morphogenesis
• Johnson-McMillin Microtia Syndrome: New Additional Family
• Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case
• Johnson-McMillin syndrome: report of a new case with novel features
• Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7
• Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system
• Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain