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P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle
by
Fratter, C
,
Raman, P
,
Alston, C
,
Blakely, E.L
,
Craig, K
,
Smith, C
,
Evans, J
,
Seller, A
,
Czermin, B
,
Hanna, M.G
,
Poulton, J
,
Brierley, C
,
Staunton, T.G
,
Turnpenny, P.D
,
Schaefer, A.M
,
Chinnery, P.F
,
Horvath, R
,
Turnbull, D.M
,
Gorman, G.S
,
Taylor, R.W
Published in
Neuromuscular disorders : NMD
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Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype
by
Sparrow, D.B.
,
Chapman, G.
,
Wouters, M.A.
,
Whittock, N.V.
,
Ellard, S.
,
Fatkin, D.
,
Turnpenny, P.D.
,
Kusumi, K.
,
Sillence, D.
,
Dunwoodie, S.L.
Published in
American journal of human genetics
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Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dy...
by
Turnpenny, P D
,
Whittock, N
,
Duncan, J
,
Dunwoodie, S
,
Kusumi, K
,
Ellard, S
Published in
Journal of medical genetics
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Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth
by
Dean, J C S
,
Hailey, H
,
Moore, S J
,
Lloyd, D J
,
Turnpenny, P D
,
Little, J
Published in
Journal of medical genetics
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