Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study

2022 ◽  
Author(s):  
Rajiv Sinha ◽  
Subal Pradhan ◽  
Sushmita Banerjee ◽  
Afsana Jahan ◽  
Shakil Akhtar ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Renal Tubular Disorder ◽  
Gene Study ◽  
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 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

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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