Results 81 to 84 of about 311 (84)

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
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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

American Journal of Medical Genetics, Part A, 2015
exaly  

Midtrimester sonographic diagnosis of mandibulofacial dysostosis

American Journal of Medical Genetics Part A, 1986
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