scholarly journals Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next-generation sequencing

2013 ◽  
Vol 1 (4) ◽  
pp. 148-153
Author(s):  
Jun-Hui Yuan ◽  
Itsuro Higuchi ◽  
Yusuke Sakiyama ◽  
Yukie Inamori ◽  
Eiji Matsuura ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Next Generation ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Targeted Next Generation Sequencing ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies

2017 ◽  
Vol 1 (Special Issue) ◽  
pp. 91-91
Author(s):  
Rajeshwari Patil ◽  
Poornachandra Poornachandra ◽  
Nallathambi Jeyabalan ◽  
Arkasubhra Ghosh ◽  
Anuprita Ghosh
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Retinal Dystrophies ◽  
Indian Patients ◽  
Generation Sequencing
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