Results 161 to 167 of about 1,217 (167)

Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations

Gene
Hua, Xie, Xiaoli, Liu, Pengfei, Luan, Jianhong, Wang, Lin, Wang, Xiaoli, Chen   +5 more
openaire   +2 more sources

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Journal of Applied Genetics, 2014
Ewa Obersztyn, Dariusz Patkowski, Maria M Sasiadek   +2 more
exaly  

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Birth Defects Research Part A: Clinical and Molecular Teratology, 2015
David Bick, Elena V Semina, Sanaa Muheisen   +2 more
exaly  

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Journal of Medical Genetics, 2012
Jean-Luc Alessandri, Stanislas Lyonnet, Jeanne Amiel   +2 more
exaly  

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

American Journal of Medical Genetics Part A, 2015
Arindam, Sarkar, Lisa T, Emrick, Eboni M, Smith, Elise G, Austin, Yaping, Yang, Jill V, Hunter, Fernando, Scaglia, Seema R, Lalani   +7 more
openaire   +2 more sources

Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel mutations

Gene
Xiaoli Chen, Jianhong Wang
exaly  

Faculty Opinions recommendation of Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2012
openaire   +1 more source