Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

2016 ◽  
Vol 32 (4) ◽  
pp. 549-559 ◽  
Author(s):  
Michael Zech ◽  
Sylvia Boesch ◽  
Angela Jochim ◽  
Sandrina Weber ◽  
Tobias Meindl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Large Scale ◽  
Clinical Exome Sequencing ◽  
Generalized Dystonia

scholarly journals Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing

2021 ◽  
Author(s):  
Ngoc Hieu Tran ◽  
Thanh‐Huong Nguyen Thi ◽  
Hung‐Sang Tang ◽  
Le‐Phuc Hoang ◽  
Trung‐Hieu Le Nguyen ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Large Scale ◽  
Clinical Exome Sequencing ◽  
Genetic Landscape ◽  
Vietnamese Population

scholarly journals Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

2019 ◽  
Vol 105 (4) ◽  
pp. 879 ◽  
Author(s):  
Dorota Monies ◽  
Mohammed Abouelhoda ◽  
Mirna Assoum ◽  
Nabil Moghrabi ◽  
Rafiullah Rafiullah ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Large Scale ◽  
Lessons Learned ◽  
Clinical Exome Sequencing

scholarly journals Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

2019 ◽  
Vol 104 (6) ◽  
pp. 1182-1201 ◽  
Author(s):  
Dorota Monies ◽  
Mohammed Abouelhoda ◽  
Mirna Assoum ◽  
Nabil Moghrabi ◽  
Rafiullah Rafiullah ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Large Scale ◽  
Lessons Learned ◽  
Clinical Exome Sequencing

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

2011 ◽  
Vol 131 (3) ◽  
pp. 435-442 ◽  
Author(s):  
Jose Felix Marti-Masso ◽  
Javier Ruiz-Martínez ◽  
Vladimir Makarov ◽  
Adolfo López de Munain ◽  
Ana Gorostidi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Generalized Dystonia ◽  
Progressive Form

scholarly journals Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

PLoS ONE ◽  
2015 ◽  
Vol 10 (1) ◽  
pp. e0116845 ◽  
Author(s):  
Vanisha Mistry ◽  
Nicholas A. Bockett ◽  
Adam P. Levine ◽  
Muddassar M. Mirza ◽  
Karen A. Hunt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Large Scale

EARLY ONSET COLORRECTAL CANCER: PHENOTYPICAL FEATURES AND ENDOSCOPIC FOLLOW-UP AFTER SURGERY

2018 ◽  
Author(s):  
Á Cañete Ruiz ◽  
J Arribas Anta ◽  
D Rueda ◽  
S Tapial ◽  
C Narvaez ◽  
...  
Keyword(s):  
Early Onset
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