The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. — المؤلف: Abu Diab, Alaa — Acta ophthalmologica 20190903
- المؤلف
- Abu Diab, Alaa
- النشر
- Acta ophthalmologica 20190903
- الوصف
- e877-e886 p.
- الموضوعات
- Adult؛ Carboxypeptidases؛ DNA؛ DNA Mutational Analysis؛ Electrooculography؛ Electroretinography؛ Exome؛ Female