Faculty Opinions recommendation of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

2011 ◽  
Author(s):  
David Glahn
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Brain Malformations

scholarly journals Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Nature ◽  
2010 ◽  
Vol 467 (7312) ◽  
pp. 207-210 ◽  
Author(s):  
Kaya Bilgüvar ◽  
Ali Kemal Öztürk ◽  
Angeliki Louvi ◽  
Kenneth Y. Kwan ◽  
Murim Choi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Brain Malformations

scholarly journals A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

10.3791/53570 ◽  
2017 ◽  
Author(s):  
Valerio Conti ◽  
Aurelie Carabalona ◽  
Emilie Pallesi-Pocachard ◽  
Richard J. Leventer ◽  
Fabienne Schaller ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Array Cgh ◽  
In Utero ◽  
Whole Exome ◽  
Brain Malformations ◽  
Novel Strategy

scholarly journals OC01.02: Genotype‐phenotype correlation in fetuses with major brain malformations using whole‐exome sequencing

2021 ◽  
Vol 58 (S1) ◽  
pp. 1-1
Author(s):  
K.K. Haratz ◽  
A. Reches ◽  
V. Offen Glassner ◽  
J. Har‐Toov ◽  
L. Ben‐Sira ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Whole Exome ◽  
Brain Malformations

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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