Results 121 to 128 of about 64,652,082 (128)

Faculty Opinions recommendation of Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2012
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Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster†‡

American Journal of Medical Genetics, Part A, 2007
David A Stevenson, Sarah T South, Arthur R Brothman   +2 more
exaly  

Midtrimester sonographic diagnosis of mandibulofacial dysostosis

American Journal of Medical Genetics, Part A, 1986
James P Crane
exaly  

Cranial base and face in mandibulofacial dysostosis

American Journal of Medical Genetics, Part A, 1993
Sven Kreiborg, Erik Dahl, E Dahl
exaly  

Neurocranial Morphology in Mandibulofacial Dysostosis (Treacher Collins Syndrome)

Cleft Palate-Craniofacial Journal, 1993
Hans Friede, Alvaro A Figueroa, A A Figueroa   +2 more
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

Mandibulofacial Dysostosis with Microcephaly: A Case Report and a Review of the Literature : Genetic Clinics

Genetic Clinics
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
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