Results 131 to 134 of about 500 (134)

HEREDITARY CRANIO - CLEIDO-DYSOSTOSIS,

Lancet, The, 1910
exaly  

A novel variant in the EFTUD2 gene is associated with mandibulofacial dysostosis with microcephaly in a Turkish patient and her mother

2020
Akyürek, Esra, KIRANATLIOĞLU, KÜBRA, DOĞAN, MUHAMMET ENSAR, DÜNDAR, MUNİS, CANPOLAT, MEHMET, ÖZKUL, YUSUF, Kazımlı, Ulviyya   +6 more
openaire   +1 more source

Cytomegalovirus Complement-Fixing Antibody in Microcephaly

New England Journal of Medicine, 1966
exaly  

Phenotype of two patients with mandibulofacial dysostosis with microcephaly (MFDM) associated with esophageal atresia and choanal atresia caused by EFTUD2 mutations

European Journal of Human Genetics, 2014
openaire