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Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.1834
◽
2021
◽
Author(s):
Pouria Mohammadi
◽
Elham Salehi Siavashani
◽
Mohammad Farid Mohammadi
◽
Afshin Bahramy
◽
Navid Almadani
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Syndrome Type
◽
Iranian Patient
◽
Whole Exome
◽
Type 3
Download Full-text
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Whole exome sequencing normal BMI-NAFLD and obese type 3-non NAFLD phenotype in Saudi Arabian population reveals novel mutations
HPB
◽
10.1016/j.hpb.2019.03.116
◽
2019
◽
Vol 21
◽
pp. S70-S71
Author(s):
F.A. AlSaif
◽
M. Ahmed
◽
M.A. AlOtaiby
◽
H.S. AlMadany
◽
M.A. AlMayouf
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Saudi Arabian
◽
Novel Mutations
◽
Whole Exome
◽
Type 3
◽
Arabian Population
Download Full-text
Whole Exome Sequencing found a Novel Truncating Mutation within CNTNAP2 Gene in an Iranian Patient with Mental Retardation
Journal of Genetic Disorders & Genetic Reports
◽
10.4172/2327-5790.1000177
◽
2018
◽
Vol 07
(03)
◽
Author(s):
Mehrnoosh Shokoohi
◽
Mohammadreza Hajjari
◽
Javad Mohammadiasl J
◽
Maryam Tahmasebi Birgani MT
Keyword(s):
Mental Retardation
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Iranian Patient
◽
Truncating Mutation
◽
Whole Exome
Download Full-text
Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.1118
◽
2020
◽
Vol 8
(3)
◽
Cited By ~ 1
Author(s):
Ehsan Razmara
◽
Homeyra Azimi
◽
Amirreza Bitaraf
◽
Mohammad Ali Daneshmand
◽
Mohammad Galehdari
◽
...
Keyword(s):
Exome Sequencing
◽
Whole Exome Sequencing
◽
Iranian Patient
◽
Whole Exome
◽
Novel Variant
Download Full-text
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing
Neuromuscular Disorders
◽
10.1016/j.nmd.2016.07.004
◽
2016
◽
Vol 26
(11)
◽
pp. 809-814
◽
Cited By ~ 5
Author(s):
Aneek Das Bhowmik
◽
Ashwin Dalal
◽
Divya Matta
◽
Rukmini M. Kandadai
◽
Meena A. Kanikannan
◽
...
Keyword(s):
Prenatal Diagnosis
◽
Exome Sequencing
◽
Whole Exome Sequencing
◽
Splice Site
◽
Syndrome Type
◽
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
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