scholarly journals Whole-exome sequencing emerges as clinical diagnostic tool

2013 ◽  
Vol 164 (1) ◽  
pp. ix-x ◽  
Author(s):  
Deborah Levenson
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Clinical Diagnostic ◽  
Whole Exome

scholarly journals Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

PLoS ONE ◽  
2017 ◽  
Vol 12 (8) ◽  
pp. e0183081 ◽  
Author(s):  
Sheila Castro-Sánchez ◽  
María Álvarez-Satta ◽  
Mohamed A. Tohamy ◽  
Sergi Beltran ◽  
Sophia Derdak ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Whole Exome

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

2017 ◽  
Vol 93 (2) ◽  
pp. 301-309 ◽  
Author(s):  
T. Hartley ◽  
J.D. Wagner ◽  
J. Warman-Chardon ◽  
M. Tétreault ◽  
L. Brady ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Peripheral Neuropathies ◽  
Valuable Diagnostic Tool ◽  
Whole Exome

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

2015 ◽  
Vol 15 (6) ◽  
pp. 749-760 ◽  
Author(s):  
Martine Tetreault ◽  
Eric Bareke ◽  
Javad Nadaf ◽  
Najmeh Alirezaie ◽  
Jacek Majewski
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

2015 ◽  
Vol 90 (3) ◽  
pp. 366-371 ◽  
Author(s):  
Pawel Tacik ◽  
Kimberly J. Guthrie ◽  
Audrey J. Strongosky ◽  
Daniel F. Broderick ◽  
Douglas L. Riegert-Johnson ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Episodic Ataxia ◽  
Whole Exome ◽  
Episodic Ataxia Type

scholarly journals Whole Exome Sequencing as a Diagnostic Tool for Complex Neurological Disorders

2014 ◽  
Vol 17 (7) ◽  
pp. A396
Author(s):  
G.W. Frederix ◽  
G. Monroe ◽  
A.M. Hövels ◽  
G. van Haaften
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Neurological Disorders ◽  
Whole Exome

scholarly journals Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis

2015 ◽  
Vol 91 (6) ◽  
pp. 583-589 ◽  
Author(s):  
Paula Cristina Barros Pereira ◽  
Flávia Medeiros Melo ◽  
Luiz Armando Cunha De Marco ◽  
Eduardo Araújo Oliveira ◽  
Débora Marques Miranda ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Diagnostic Tool ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

scholarly journals Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis

2015 ◽  
Vol 91 (6) ◽  
pp. 583-589 ◽  
Author(s):  
Paula Cristina Barros Pereira ◽  
Flávia Medeiros Melo ◽  
Luiz Armando Cunha De Marco ◽  
Eduardo Araújo Oliveira ◽  
Débora Marques Miranda ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Diagnostic Tool ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies

2012 ◽  
Vol 22 (9-10) ◽  
pp. 809
Author(s):  
M. Neri ◽  
M. Bovolenta ◽  
C. Scotton ◽  
T. Castrignanò ◽  
G.A.G. Vattemi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Tool ◽  
Whole Exome
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