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Genetic architecture of laterality defects revealed by whole exome sequencing
European Journal of Human Genetics
◽
10.1038/s41431-018-0307-z
◽
2019
◽
Vol 27
(4)
◽
pp. 563-573
◽
Cited By ~ 8
Author(s):
Alexander H. Li
◽
Neil A. Hanchard
◽
Mahshid Azamian
◽
Lisa C. A. D’Alessandro
◽
Zeynep Coban-Akdemir
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Genetic Architecture
◽
Whole Exome
◽
Laterality Defects
Download Full-text
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References
Whole-exome sequencing elucidates genetic architecture of autism spectrum disorder
Nature Reviews Neurology
◽
10.1038/nrneurol.2014.219
◽
2014
◽
Vol 10
(12)
◽
pp. 674-674
Keyword(s):
Autism Spectrum Disorder
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Genetic Architecture
◽
Autism Spectrum
◽
Spectrum Disorder
◽
Whole Exome
Download Full-text
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates
Biomedical Papers
◽
10.5507/bp.2018.054
◽
2019
◽
Vol 163
(4)
◽
pp. 309-317
◽
Cited By ~ 1
Author(s):
Anna Chaloupka
◽
Lenka Piherova
◽
Ilga Grochova
◽
Jana Binova
◽
Jan Krejci
◽
...
Keyword(s):
Dilated Cardiomyopathy
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Genetic Architecture
◽
Recent Onset
◽
Clinical Correlates
◽
Whole Exome
Download Full-text
Whole exome sequencing analysis revealed complex genetic architecture of early-onset spinocerebellar degeneration in the Japanese Population
Journal of the Neurological Sciences
◽
10.1016/j.jns.2017.08.213
◽
2017
◽
Vol 381
◽
pp. 54
Author(s):
Y. Hama
◽
M. Kanai
◽
S. Watanabe
◽
H. Ishiura
◽
J. Mitsui
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Early Onset
◽
Japanese Population
◽
Genetic Architecture
◽
Sequencing Analysis
◽
Spinocerebellar Degeneration
◽
Whole Exome
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 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
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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