scholarly journals Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family

2019 ◽  
Vol 7 (7) ◽  
Author(s):  
Khalda Amr ◽  
Patrycja Pawlikowska ◽  
Said Aoufouchi ◽  
Filippo Rosselli ◽  
Ghada El‐Kamah
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Megaloblastic Anemia ◽  
New Mutation ◽  
Whole Exome ◽  
Slc19a2 Gene

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction

Gene ◽  
2015 ◽  
Vol 558 (1) ◽  
pp. 138-142 ◽  
Author(s):  
Jing Yang ◽  
Meng Zhu ◽  
Yao Wang ◽  
Xiaofeng Hou ◽  
Hongping Wu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Left Ventricular ◽  
Chinese Family ◽  
Left Ventricular Noncompaction ◽  
New Mutation ◽  
Ventricular Noncompaction ◽  
Whole Exome

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

2014 ◽  
Vol 437 ◽  
pp. 88-92 ◽  
Author(s):  
Marina Gago-Díaz ◽  
Alejandro Blanco-Verea ◽  
Gisela Teixidó-Turà ◽  
Irene Valenzuela ◽  
Miguel Del Campo ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Aortic Disease ◽  
Familial Case ◽  
New Mutation ◽  
Whole Exome

Severe Walker–Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing

2016 ◽  
Vol 26 ◽  
pp. S165
Author(s):  
A. Kaçar Bayram ◽  
H. Per ◽  
H. Gumus ◽  
S. Kumandas ◽  
A. Çağlayan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
New Mutation ◽  
Whole Exome

scholarly journals Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene

2020 ◽  
Vol 46 (5) ◽  
pp. 400-402 ◽  
Author(s):  
B. Bouillet ◽  
E. Crevisy ◽  
S. Baillot-Rudoni ◽  
D. Gallegarine ◽  
T. Jouan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
New Mutation ◽  
Whole Exome

scholarly journals A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn

2018 ◽  
Vol 131 (19) ◽  
pp. 2384-2385
Author(s):  
Hua Zhang ◽  
Li-Ming Yang ◽  
Lu Yuan ◽  
Xin Tan ◽  
Fu-Qing Zhang
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cornelia De Lange Syndrome ◽  
New Mutation ◽  
Whole Exome ◽  
Cornelia De Lange

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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