Publications by authors named "C DeVile"

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An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.
Rachel L Sagar, Eva Åström, Lyn S Chitty, Belinda Crowe, Anna L David, Catherine DeVile

BMJ Open· June 2024

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Osteogenesis imperfecta.
E Chan, C DeVile, V S Ratnamma

BJA Educ· May 2023

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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista, Richard Caswell, Catherine DeVile

Hum Mol Genet· January 2023

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
William L Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Catherine DeVile

Nat Commun· November 2022

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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in .
Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, Margot A Cousin, Sarah S Barnett, Catherine DeVile

Front Cell Dev Biol· February 2022

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