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mutation patient ndufa protein mitochondrial control syndrome genet broblast fi broblasts rotatin leigh syndrome brain cilia disease development figure cause identi ficiency ndufa 9 genetic disorder identi fied subunit basal bodies family erasmus mc leigh analysis individual region defect cortex mouse american journal function control fi broblasts patient fi broblasts department i activity cell polarity basal netherland change article table type ndufa 9 homozygosity mapping candidate gene analysis candidate abnormality neuron erasmu oxpho expression .2796a activity cr neurons fi ndings mapping smeitink ja organization homozygosity prokisch h wnt 5a amount sirna kbg syndrome complementation method 10 years mitochondrial disease approach sequencing polarity c .2796a cells american 15. ciliary
3 Most Recent Publications
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RTTN mutations link primary cilia function to organization of the human cerebral cortex
(Article)
Kia, S.K. Verbeek, E. Brehm, A. Wit, M.C.Y. de Oegema, R. Dobyns, W.B. Verheijen, F.W. Mancini, G.M.S. Engelen, E. Schot, R. Poot, R. Coo, I.F.M. de Leguin, M. Poulton, C.J. Pourfarzad, F. Grosveld, F.G. |
2012-09-07
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
(Article)
van den Bosch, B.J.C. Gerards, M. Schoonderwoerd, K. Coo, I.F.M. de Smeets, H.J. Sluiter, W. Stegmann, A.P.A. Jongen, E.L.C. Hellebrekers, D.M.E.I. Oegema, R. Lambrichs, E.H. Prokisch, H. Danhauser, K. |
2012-01-01
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KBG syndrome associated with periventricular nodular heterotopia
(Article)
Oegema, R. Schot, R. Wit, M.C.Y. de Leguin, M. Oostenbrink, R. Coo, I.F.M. de Mancini, G.M.S. |
2010-07-01
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