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  3. Research By Disease

Disease: Myopia- infantile severe

  • Axial myopia associated with dense vitreous hemorrhage of the neonate
  • Case Report: Novel Biallelic Variants in the <em>COL18A1</em> Gene in a Chinese Family With Knobloch Syndrome
  • Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients
  • Consequences of retinal image clarity versus occlusion (absent) versus diffusion
  • Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation
  • Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
  • Etiology of childhood visual impairment in 1989
  • Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism
  • Increase of ocular axial length in infantile traumatic cataract
  • Infantile glaucoma in Down's syndrome (trisomy 21)
  • Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X
  • PMM2-CDG
  • Scoring system for chronic open glaucoma
  • Strabismus Repair in Children with Varying Severity of Cerebral Palsy
  • Visual outcome in 879 children treated for strabismus: insufficient accommodation and vision deprivation, deficient emmetropisation and anisometropia
  • X-Linked Myotubular Myopathy
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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