Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndrome

2017 ◽  
Vol 27 ◽  
pp. S196-S197
Author(s):  
A. Topf ◽  
Y. Azuma ◽  
S. Gorokhova ◽  
E. O'Connor ◽  
A. Porter ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Congenital Myasthenic Syndrome ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Myasthenic Syndrome ◽  
Generation Sequencing

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

2014 ◽  
Vol 35 (1) ◽  
pp. 261-265 ◽  
Author(s):  
John Beck ◽  
Alan Pittman ◽  
Gary Adamson ◽  
Tracy Campbell ◽  
Joanna Kenny ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Diagnosis Of Dementia ◽  
Generation Sequencing

P1-182: Validation of next-generation sequencing technologies to radically change dementia genetic diagnosis

2013 ◽  
Vol 9 ◽  
pp. P215-P215
Author(s):  
Jon Beck ◽  
Gary Adamson ◽  
Tracy Campbell ◽  
Janna Kenny ◽  
Henry Houlden ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Generation Sequencing

A comparison of array technologies and next generation sequencing technologies in preconception genetic diagnosis

2012 ◽  
Vol 98 (3) ◽  
pp. S195
Author(s):  
A. Bisignano ◽  
K. Ketterson ◽  
J. Fischer ◽  
D. Wells ◽  
J. Horcajadas ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Generation Sequencing

scholarly journals Rapid whole-genome mutational profiling using next-generation sequencing technologies

2008 ◽  
Vol 18 (10) ◽  
pp. 1638-1642 ◽  
Author(s):  
D. R. Smith ◽  
A. R. Quinlan ◽  
H. E. Peckham ◽  
K. Makowsky ◽  
W. Tao ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Whole Genome ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Mutational Profiling ◽  
Generation Sequencing
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