Results 151 to 160 of about 1,217 (167)

EFTUD2-Expression als unabhängiger Marker für das Überleben im Endometriumkarzinom

Geburtshilfe und Frauenheilkunde, 2022
S Beyer, L Müller, L Keilmann, S Meister, C Buschmann, TM Kolben, E Schmoeckel, A Burges, F Trillsch, B Czogalla, U Jeschke, M Kessler, S Mahner, T Kolben   +13 more
openaire   +1 more source

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type

Human Mutation, 2020
Jeanne Amiel, Veronique Pingault, Raymond T O'Keefe   +2 more
exaly  

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type

Clinical Dysmorphology, 2020
Yoko, Narumi-Kishimoto, Hiroshi, Ozawa, Kumiko, Yanagi, Tomoko, Kawai, Koji, Okamura, Kenichiro, Hata, Tadashi, Kaname, Yoichi, Matsubara   +7 more
openaire   +2 more sources

eP246: Novel EFTUD2 variant adds to understanding of phenotypic spectrum of mandibulofacial dysostosis with microcephaly

Genetics in Medicine, 2022
Kathleen Shields, Kate Mowrey, Paul Hillman   +2 more
openaire   +1 more source

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
Byung Yoon Choi, Jin Hee Han, Da-Hye Lee
exaly  

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly

Journal of Clinical Laboratory Analysis, 2022
Huaqin Sun, Ting Hu, Mei Yang
exaly  

EFTUD2 restricts hepatitis B virus infection by regulating RIG-I expression

Journal of Hepatology, 2018
C. Zhu, F. Xiao, Q. Wang, T. Zhu, L. Kong, J. Li   +5 more
openaire   +1 more source

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype†

American Journal of Medical Genetics, Part A, 2013
Daniela V Luquetti, Mark J Rieder, Michael L Cunningham   +2 more
exaly  

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

Cleft Palate-Craniofacial Journal, 2015
Yuri A Zarate, G Bradley Schaefer, Carla Bell   +2 more
exaly  

Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation, 2014
Jean-Luc Alessandri, Stanislas Lyonnet, Jeanne Amiel   +2 more
exaly