scholarly journals Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects

Haematologica ◽  
2019 ◽  
Vol 104 (10) ◽  
pp. 2084-2090 ◽  
Author(s):  
Marcin M. Gorski ◽  
Anna Lecchi ◽  
Eti A. Femia ◽  
Silvia La Marca ◽  
Andrea Cairo ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Discovery ◽  
Causal Gene ◽  
Whole Exome ◽  
Primary Platelet ◽  
Platelet Secretion

scholarly journals Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Cell Reports ◽  
2015 ◽  
Vol 10 (2) ◽  
pp. 148-161 ◽  
Author(s):  
Anas M. Alazami ◽  
Nisha Patel ◽  
Hanan E. Shamseldin ◽  
Shamsa Anazi ◽  
Mohammed S. Al-Dosari ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Discovery ◽  
Whole Exome ◽  
Neurogenetic Disorders

D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia

2012 ◽  
Vol 22 (9-10) ◽  
pp. 810
Author(s):  
M. Neri ◽  
M. Bovolenta ◽  
C. Scotton ◽  
D. De Grandis ◽  
T. Castrignanò ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Gene Discovery ◽  
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
Sign in / Sign up

Export Citation Format

Share Document