Disease: Nystagmus 2- congenital- autosomal dominant
- A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes
- 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
- A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692
- A novel mutation of <em>LIM2</em> causes autosomal dominant membranous cataract in a Chinese family
- A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family
- A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2
- A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN)
- An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
- 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 foveal hypoplasia and presenile cataracts. A new syndrome
- 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
- Compound heterozygous novel frameshift variants in the <em>PROM1</em> gene result in Leber congenital amaurosis
- Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
- Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1
- Congenital and infantile cataract: aetiology and management
- Congenital motor nystagmus linked to Xq26-q27
- Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia
- Diagnostic survey at Yamanashi School for Blind: importance of heredity
- Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
- Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients--autosomal dominant and x-chromosome recessive modes of inheritance
- Karsch-Neugebauer syndrome in two sibs with unaffected parents
- Molecular genetics advances of congenital idiopathic nystagmus
- Motor and sensory characteristics of infantile nystagmus
- Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
- Ocular manifestations of Noonan syndrome
- Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?
- p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus
- Pediatric Cataract
- Spinocerebellar ataxia type 28
- The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children
- The molecular genetics of congenital idiopathic nystagmus
- X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review