Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

Gelijkaardige items

• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
  door: Namburi, Prasanthi, et al.
  Gepubliceerd in: (2016)
• A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
  door: Namburi, Prasanthi, et al.
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• Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and DYSF
  door: Lazar, Csilla H., et al.
  Gepubliceerd in: (2015)
• Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel
  door: Lazar, Csilla H., et al.
  Gepubliceerd in: (2015)
• Low expression of centrosomal protein 78 (CEP78) is associated with poor prognosis of colorectal cancer patients
  door: Zhang, Meifang, et al.
  Gepubliceerd in: (2016)