Results 151 to 155 of about 1,898 (155)

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
Linda M Reis, Sanaa Muheisen, David Bick   +2 more
exaly  

Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation, 2014
Christopher T Gordon, Neus Baena, Genevieve Baujat   +2 more
exaly  

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Journal of Medical Genetics, 2012
Christopher T Gordon, Florence Petit, Anne-Sophie Jourdain   +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

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse

PLoS ONE, 2019
Anissa Djedid, Jacek Majewski, Loydie A Jerome-Majewska   +2 more
exaly