Publications by authors named "Rowenna Roberts"

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Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder.
Lara Menzies, Alexander Gibbs, Tazeen Ashraf, Clare Beesley, Rowenna Roberts

Prenat Diagn· July 2025

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Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops.
Natalie Chandler, Poppy Brace, Rowenna Roberts, Rhiannon Mellis

Prenat Diagn· June 2023

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Lessons learnt from prenatal exome sequencing.
Natalie J Chandler, Elizabeth Scotchman, Rhiannon Mellis, Vijaya Ramachandran, Rowenna Roberts

Prenat Diagn· June 2022

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Ronit Marom, Lindsay C Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Rowenna Roberts

Am J Hum Genet· September 2021

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