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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Nature
◽
10.1038/nature09327
◽
2010
◽
Vol 467
(7312)
◽
pp. 207-210
◽
Cited By ~ 346
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
Download Full-text
Related Documents
Cited By
References
Faculty Opinions recommendation of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.5376956.9620054
◽
2011
◽
Author(s):
David Glahn
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Whole Exome
◽
Brain Malformations
Download Full-text
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Journal of Visualized Experiments
◽
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
Download Full-text
Faculty Opinions recommendation of Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.5376956.5328054
◽
2010
◽
Author(s):
Giovanni Neri
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Whole Exome
◽
Brain Malformations
Download Full-text
OC01.02: Genotype‐phenotype correlation in fetuses with major brain malformations using whole‐exome sequencing
Ultrasound in Obstetrics and Gynecology
◽
10.1002/uog.23768
◽
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
Download Full-text
Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)
The Thoracic and Cardiovascular Surgeon
◽
10.1055/s-0034-1393993
◽
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
Download Full-text
FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder
10.1055/s-0038-1675915
◽
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
Download Full-text
Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
Endocrine Abstracts
◽
10.1530/endoabs.39.oc5.2
◽
2015
◽
Author(s):
Lucy Shapiro
◽
Martin Savage
◽
Lou Metherell
◽
Helen Storr
Keyword(s):
Short Stature
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Single Gene
◽
Genetic Characterisation
◽
Whole Exome
Download Full-text
Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES)
Case Medical Research
◽
10.31525/ct1-nct04126915
◽
2019
◽
Author(s):
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Whole Exome
Download Full-text
Faculty Opinions recommendation of Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.717956777.793461365
◽
2012
◽
Author(s):
Jane Hewitt
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Gene Identification
◽
Congenital Disorders
◽
Type I
◽
Congenital Disorders Of Glycosylation
◽
Whole Exome
Download Full-text
Faculty Opinions recommendation of Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.718048076.793481338
◽
2013
◽
Author(s):
Wim van Hul
Keyword(s):
Bone Density
◽
Trabecular Bone
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Vertebral Compression Fractures
◽
Trabecular Bone Density
◽
Compression Fractures
◽
Whole Exome
Download Full-text
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