ScienceGate
Advanced Search
Author Search
Journal Finder
Blog
Sign in / Sign up
ScienceGate
Search
Author Search
Journal Finder
Blog
Sign in / Sign up
Whole-exome sequencing: A changing landscape of prenatal counseling
Mapping Intimacies
◽
10.1016/b978-0-12-823329-0.00001-5
◽
2022
◽
pp. 39-67
Author(s):
Karin E.M. Diderich
◽
J.E. Klapwijk
◽
M. Joosten
◽
H.T. Brüggenwirth
◽
M.I. Srebniak
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Prenatal Counseling
◽
Whole Exome
Download Full-text
Related Documents
Cited By
References
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling
International Journal of Pediatric Otorhinolaryngology
◽
10.1016/j.ijporl.2018.01.005
◽
2018
◽
Vol 106
◽
pp. 113-119
Author(s):
Hongbo Cheng
◽
Qin Zhang
◽
Wenbin Wang
◽
Qingxia Meng
◽
Fuxin Wang
◽
...
Keyword(s):
Hearing Loss
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Autosomal Dominant
◽
Pathogenic Mutation
◽
Prenatal Counseling
◽
Chinese Families
◽
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
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.718131259.793487604
◽
2013
◽
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
Sign in / Sign up
Close
Export Citation Format
Close
Share Document
Close