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List of works by Myriam Oufadem

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

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