Results 161 to 162 of about 1,172 (162)

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Journal of Medical Genetics, 2012
Stanislas Lyonnet, Jeanne Amiel, Florence Petit   +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