scholarly journals Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia

2018 ◽  
Vol 1 (3) ◽  
Author(s):  
Han Xiao
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Multiple Epiphyseal Dysplasia ◽  
Whole Exome ◽  
Epiphyseal Dysplasia ◽  
Comp Gene

scholarly journals Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

2017 ◽  
Vol 130 (1) ◽  
pp. 104-107 ◽  
Author(s):  
Hong-Yan Liu ◽  
Ji-Fang Xiao ◽  
Jia Huang ◽  
Yue Wang ◽  
Dong Wu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Multiple Epiphyseal Dysplasia ◽  
Chinese Family ◽  
Whole Exome ◽  
Epiphyseal Dysplasia

Whole exome sequencing identified a novelCOL2A1mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

2015 ◽  
Vol 170 (3) ◽  
pp. 795-798 ◽  
Author(s):  
Masaki Takagi ◽  
Mika Shimizu ◽  
Eri Suzuki ◽  
Hiroyuki Shinohara ◽  
Satoshi Narumi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Dominant ◽  
Whole Exome ◽  
Epiphyseal Dysplasia

NovelDDR2mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

2015 ◽  
Vol 170 (2) ◽  
pp. 460-465 ◽  
Author(s):  
Maria Mansouri ◽  
Hülya Kayserili ◽  
Siham Chafai Elalaoui ◽  
Gen Nishimura ◽  
Aritoshi Iida ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Short Limb ◽  
Whole Exome ◽  
Epiphyseal Dysplasia ◽  
Moroccan Patient

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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