We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific
β-tubulin isotype III, result in a spectrum of human nervous system disorders that we now …

"Early-onset glaucoma" refers to genetically heterogeneous conditions for which glaucoma
manifests at age 5–40 years and for which only a small subset is molecularly characterized. …

Cornelia de Lange syndrome (CdLS), also known as Brachmann‐de Lange syndrome, is a
well‐described multiple malformation syndrome typically involving proportionate small stature…

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized
by intellectual disability, well-defined facial features, upper limb anomalies and atypical …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the landscape …

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an
autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We …

PURPOSE: To report correlation between retinal and intracranial abnormalities and to
evaluate pathogenesis of retinal hemorrhages in the shaken baby syndrome (SBS). DESIGN: …

The steel of Damascus blades, which were first encountered by the Crusaders when
fighting against Muslims, had features not found in European steels — a characteristic wavy …

Objectives To test the hypothesis that mutations in theCRB1gene cause Leber congenital
amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who …

Retinal hemorrhage is a cardinal manifestation of abusive head trauma. Over the 30 years
since the recognition of this association, multiple streams of research, including clinical, …