Disease: Retinitis pigmentosa mental retardation deafness
- Alström Syndrome with Early Vision and Hearing Impairement
- Associated malformations among infants with anophthalmia and microphthalmia
- Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency
- Children with Usher syndrome: mental and behavioral disorders
- Ciliopathy--cause of several peculiar syndromes
- Development and characteristics of children with Usher syndrome and CHARGE syndrome
- Exome sequencing identifies <em>PEX6</em> mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
- Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
- Genetic mapping and exome sequencing identify variants associated with five novel diseases
- Mania associated with Usher syndrome type II
- Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1
- Rarer syndromes characterized by hypogonadotropic hypogonadism
- Retinal involvement in two unrelated patients with Myhre syndrome
- The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
- Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
- Usher syndrome associated with a variant of Dandy-Walker malformation