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

scholarly journals Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

2020 ◽  
Vol 97 (3) ◽  
pp. 567-579 ◽  
Author(s):  
Tilman Jobst-Schwan ◽  
Verena Klämbt ◽  
Maureen Tarsio ◽  
John F. Heneghan ◽  
Amar J. Majmundar ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

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
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