Publications by authors named "F Encha-Razavi"

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COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Ferechté Encha-Razavi

Mol Genet Genomic Med· April 2025

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Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum.
Anders W Erickson, Henry Tan, Liam D Hendrikse, Jake Millman, Zachary Thomson, Ferechte Encha-Razavi

Proc Natl Acad Sci U S A· April 2025

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Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Férechté Encha-Razavi

Acta Neuropathol Commun· February 2023

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Delineating septo-optic dysplasia.
Mark Lubinsky, Férechté Encha-Razavi

Birth Defects Res· December 2022

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Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Mathilde Weber, Dana Jaber, Ferechte Encha-Razavi, Emmanuel Julien, Julie Grevoul-Fesquet

Am J Med Genet A· August 2022

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