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Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion
Clinical Orthopaedics and Related Research
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10.1097/corr.0000000000001957
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2021
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Vol Publish Ahead of Print
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Author(s):
Ashley Quiggle
◽
Wu-Lin Charng
◽
Lilian Antunes
◽
Momchil Nikolov
◽
Xavier Bledsoe
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Idiopathic Clubfoot
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Whole Exome
◽
Filamin B
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References
Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)
The Thoracic and Cardiovascular Surgeon
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10.1055/s-0034-1393993
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2014
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Vol 62
(S 02)
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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
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2018
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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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Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
Endocrine Abstracts
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10.1530/endoabs.39.oc5.2
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2015
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Author(s):
Lucy Shapiro
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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
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10.31525/ct1-nct04126915
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2019
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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
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10.3410/f.5376956.9620054
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2011
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Author(s):
David Glahn
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
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Whole Exome
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Brain Malformations
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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
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10.3410/f.717956777.793461365
◽
2012
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Author(s):
Jane Hewitt
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Gene Identification
◽
Congenital Disorders
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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
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10.3410/f.718048076.793481338
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2013
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Author(s):
Wim van Hul
Keyword(s):
Bone Density
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Trabecular Bone
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Exome Sequencing
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Whole Exome Sequencing
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Vertebral Compression Fractures
◽
Trabecular Bone Density
◽
Compression Fractures
◽
Whole Exome
Download Full-text
Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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10.3410/f.718131259.793487604
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2013
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Author(s):
Marc S Williams
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Mendelian Disorders
◽
Whole Exome
Download Full-text
Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.718131259.793486238
◽
2013
◽
Author(s):
Gail Herman
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Mendelian Disorders
◽
Whole Exome
Download Full-text
Faculty Opinions recommendation of Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.718131259.793486015
◽
2014
◽
Author(s):
François Cambien
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Mendelian Disorders
◽
Whole Exome
Download Full-text
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