scholarly journals VP33.07: Use of whole‐exome sequencing in establishing diagnosis of a rare metabolic disorder manifesting with multiple anomalies in a fetus

2020 ◽  
Vol 56 (S1) ◽  
pp. 195-196
Author(s):  
L. Prasannan ◽  
O.R. D'Accordo ◽  
B. Smith ◽  
R. Madankumar
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Metabolic Disorder ◽  
Whole Exome ◽  
Rare Metabolic Disorder

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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