scholarly journals Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

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

scholarly journals Whole exome sequencing normal BMI-NAFLD and obese type 3-non NAFLD phenotype in Saudi Arabian population reveals novel mutations

HPB ◽  
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

scholarly journals Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

2020 ◽  
Vol 8 (3) ◽  
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

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

2016 ◽  
Vol 26 (11) ◽  
pp. 809-814 ◽  
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

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

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

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

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
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