Results 141 to 150 of about 1,898 (155)

Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection

Immunological Investigations, 2022
Haozhi Fan, Chen Dong, Chuanlong Zhu
exaly  

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

Human Mutation, 2020
Huw B Thomas, Katherine A Wood, Weronika A Buczek   +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

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

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

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

Journal of Clinical Laboratory Analysis, 2022
Mei Yang, Yanyan Liu, Ziyuan Lin
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, Anne V Hing, Mark J Rieder   +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
exaly  

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
Robert Smigiel, Dariusz Patkowski, Maria M Sasiadek   +2 more
exaly