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Number of items: 2.
Article
Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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Onoufriadis, A;
Shoemark, A;
Schmidts, M;
Patel, M;
Jimenez, G;
Liu, H;
Thomas, B;
... Mitchison, HM; + view all
(2014)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects.
Hum Mol Genet
, 23
(13)
pp. 3362-3374.
10.1093/hmg/ddu046.
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