Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
scientific article published on 5 October 2015
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author: Meena Balasubramanian, Alejandro Sifrim, Jeffrey Barrett, David FitzPatrick, Moira Blyth, Tomas Fitzgerald, Richard Francis, Sebastian Gerety, Ajith Kumar, Christopher J. Lelliott, Jenny Lord, Jawahar Swaminathan, Caroline Wright, Helen Firth, Judith A Goodship, Elena Prigmore, Jeremy McRae
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