نتایج جستجو برای: autosomal

تعداد نتایج: 32291  

Journal: :Indian Journal of Ophthalmology 2020

Journal: :Biomedical Journal of Scientific and Technical Research 2023

Joubert syndrome (JS) is a rare autosomal dominant gene disorder that heterogeneously inherited and manifests itself as hypotonia, ataxia, breathing abnormalities, developmental delay, intellectual disabilities, oculomotor apraxia, brain malformation [1-3].

Journal: :Investigative ophthalmology & visual science 1990
P J Ringens M Fang T Shinohara C D Bridges C L Lerea E L Berson T P Dryja

We screened 526 unrelated patients with autosomal dominant, autosomal recessive, or simplex retinitis pigmentosa for evidence of mutations of the genes encoding S-antigen (S-Ag), interstitial retinol binding protein (IRBP), and the alpha-subunit of cone-specific transducin. Restriction fragment length polymorphisms (RFLPs) were identified at each of these loci. Within each set of patients with ...

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