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Search Results - Ockeloen, C.W
Search Results - Ockeloen, C.W
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Congenital myopathy caused by a novel missense mutation in the CFL2 gene
by
Ockeloen, C.W
,
Gilhuis, H.J
,
Pfundt, R
,
Kamsteeg, E.J
,
Agrawal, P.B
,
Beggs, A.H
,
Dara Hama-Amin, A
,
Diekstra, A
,
Knoers, N.V.A.M
,
Lammens, M
,
van Alfen, N
Published in
Neuromuscular disorders : NMD
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P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene
by
Ockeloen, C.W
,
Gilhuis, H.J
,
Pfundt, R
,
Kamsteeg, E.J
,
Beggs, A.H
,
Dara-Hama Amin, A
,
Knoers, V.V.A
,
Lammens, M
,
Alfen, N
Published in
Neuromuscular disorders : NMD
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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome
by
Feberwee, H.E.
,
Feenstra, I.
,
Oberoi, S.
,
Sama, I.E.
,
Ockeloen, C.W.
,
Clum, F.
,
Slavotinek, A.
,
Kuijpers, M.A.R.
,
Dooijes, D.
,
Kuijpers-Jagtman, A.M.
,
Kleefstra, T.
,
Carels, C.E.L.
Published in
Clinical genetics
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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
by
Wincent, J.
,
Bruno, D.L.
,
van Bon, B.W.M.
,
Bremer, A.
,
Stewart, H.
,
Bongers, E.M.H.F.
,
Ockeloen, C.W.
,
Willemsen, M.H.
,
Keays, D.A.D.
,
Baird, G.
,
Newbury, D.F.
,
Kleefstra, T.
,
Marcelis, C.
,
Kini, U.
,
Stark, Z.
,
Savarirayan, R.
,
Sheffield, L.J.
,
Zuffardi, O.
,
Slater, H.R.
,
de Vries, B.B.
,
Knight, S.J.L.
,
Anderlid, B.-M.
,
Schoumans, J.
Published in
Molecular syndromology
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Neuromuscular Disorders : Nmd
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Clinical Genetics
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Molecular Syndromology
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Neuromuscular Disorders
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Life Sciences & Biomedicine
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Science & Technology
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Mutation, Missense - Genetics
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Neurology
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Young Adult
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22Q11.2 Distal Duplication
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Actin
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Adenosine Triphosphatases - Metabolism
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Array Comparative Genomic Hybridization
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Cfl2
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