scholarly journals Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure

2019 ◽  
Vol 10 (10) ◽  
pp. e00087 ◽  
Author(s):  
Jorge Rakela ◽  
Jody Rule ◽  
Daniel Ganger ◽  
Julie Lau ◽  
Julie Cunningham ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

2017 ◽  
Vol 3 (6) ◽  
pp. a002147 ◽  
Author(s):  
Mersedeh Rohanizadegan ◽  
Sara M. Abdo ◽  
Anne O'Donnell-Luria ◽  
Ivana Mihalek ◽  
Peggy Chen ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Exome Sequencing ◽  
Disease Type ◽  
Fetal Hydrops ◽  
Niemann Pick Disease ◽  
Whole Exome ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure

Medicine ◽  
2022 ◽  
Vol 101 (2) ◽  
pp. e28547
Author(s):  
Nguyen Pham Anh Hoa ◽  
Nguyen Thi Kim Lien ◽  
Nguyen Van Tung ◽  
Nguyen Ngoc Lan ◽  
Nguyen Thi Phuong Mai ◽  
...  
Keyword(s):  
Liver Failure ◽  
Biliary Atresia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Wilson Disease ◽  
Severe Liver ◽  
Whole Exome

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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