Présentation
Publications scientifiques
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2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal letha..., Eur J Hum Genet
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2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
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2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
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2019
Cilia in hereditary cerebral anomalies., Biol Cell
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2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ..., Am J Med Genet A
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2018
A neuropathological study of novel RTTN gene mutations causing a familial mic..., Birth Defects Res