Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

Gene ◽  
2013 ◽  
Vol 530 (2) ◽  
pp. 295-300 ◽  
Author(s):  
Zhaojing Zheng ◽  
Juan Geng ◽  
Ru-en Yao ◽  
Caihua Li ◽  
Daming Ying ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fanconi Anemia ◽  
Molecular Defects ◽  
Whole Exome

scholarly journals Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Lixian Chang ◽  
Weiping Yuan ◽  
Huimin Zeng ◽  
Quanquan Zhou ◽  
Wei Wei ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fanconi Anemia ◽  
Whole Exome

scholarly journals Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e52648 ◽  
Author(s):  
Kerstin Knies ◽  
Beatrice Schuster ◽  
Najim Ameziane ◽  
Martin Rooimans ◽  
Thomas Bettecken ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fanconi Anemia ◽  
Whole Exome

scholarly journals PB1862 WHOLE EXOME SEQUENCING REVEALS XRCC2 MUTATION CAUSING FANCONI ANEMIA

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 849
Author(s):  
A. Alhashem ◽  
B. Alabbasi ◽  
H. Alfaridi
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fanconi Anemia ◽  
Whole Exome

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP

2012 ◽  
Vol 34 (1) ◽  
pp. 93-96 ◽  
Author(s):  
Beatrice Schuster ◽  
Kerstin Knies ◽  
Chantal Stoepker ◽  
Eunike Velleuer ◽  
Richard Friedl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Fanconi Anemia ◽  
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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