Disease: Nystagmus 3- congenital- autosomal dominant
- <em>TRPM3</em>-Related Neurodevelopmental Disorder
- A commentary on confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1
- A family with autosomal dominant spinocerebellar ataxia, with electrophysiological findings
- A gene for autosomal dominant congenital nystagmus localizes to 6p12
- A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
- A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes
- A new dominantly inherited pure cerebellar ataxia, SCA 30
- Analysis of genotype-phenotype correlations in <em>PAX6</em>-associated aniridia
- Aniridia
- Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics
- Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
- Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family
- Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
- Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions
- Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
- Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12
- Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1
- Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
- Congenital motor nystagmus linked to Xq26-q27
- Diagnostic survey at Yamanashi School for Blind: importance of heredity
- Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
- Eye movements in a familial vestibulocerebellar disorder
- Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in <em>PAX6</em> in a South African family
- Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family
- Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients--autosomal dominant and x-chromosome recessive modes of inheritance
- Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
- Hypomagnesaemia of hereditary renal origin
- Introduction to genetics in ophthalmology, value of family studies
- Introduction to genetics in ophthalmology. Value of family studies
- Motor and sensory characteristics of infantile nystagmus
- Neural circuit involved in idiopathic infantile nystagmus syndrome based on FMRI
- Neurological manifestations of the oculodentodigital dysplasia syndrome
- Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
- Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance
- Pediatric Cataract
- The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia
- The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children