Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway

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Biochemistry, Genetics and Molecular Biology