학술논문
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Document Type
Article
Author
Akawi, N.; McRae, J.; Clayton, S.; Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; King, D.; Lelliott, C.; Lord, J.; Piombo, V.; Prigmore, E.; Rajan, D.; Sifrim, A.; Swaminathan, G.J.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; Ansari, M.; FitzPatrick, D.R.; Balasubramanian, M.; Blyth, M.; Hobson, E.; Smith, A.; Brady, A.F.; Cole, T.; McMullan, D.; Whitworth, J.; Deshpande, C.; Foulds, N.; Francis, R.; Gabriel, G.; Klena, N.; Lo, C.W.; Goodship, J.; Joss, S.; O'Regan, M.; Kumar, A.; Lees, M.; Rosser, E.; Osio, D.; Turnpenny, P.; Firth, H.V.
Source
In: Nature Genetics . (Nature Genetics, 1 November 2015, 47(11):1363-1369)
Subject
Language
English
ISSN
15461718
10614036
10614036