A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome

2021 ◽  
Author(s):  
Mohammad Reza Karimzadeh ◽  
Fatemeh Omidi ◽  
Afsaneh Sahebalzamani ◽  
Kolsoum Saeidi
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Iranian Patients

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

2020 ◽  
Vol 42 (8) ◽  
pp. 587-593
Author(s):  
Jamil A. Hashmi ◽  
Fatima Fadhli ◽  
Ahmed Almatrafi ◽  
Sibtain Afzal ◽  
Khushnooda Ramzan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygosity Mapping ◽  
Cohen Syndrome ◽  
Whole Exome ◽  
Saudi Family ◽  
Exact Diagnosis

scholarly journals Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing

2021 ◽  
Vol Volume 14 ◽  
pp. 1583-1589
Author(s):  
Xiaoyun Hu ◽  
Tao Huang ◽  
Yun Liu ◽  
Lina Zhang ◽  
Li Zhu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Chinese Patient ◽  
Cohen Syndrome ◽  
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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