Search Results - "Gilhuis, H.J."

Respiratory function in facioscapulohumeral muscular dystrophy 1 by Wohlgemuth, M, Horlings, C.G.C, van der Kooi, E.L, Gilhuis, H.J, Hendriks, J.C.M, van der Maarel, S.M, van Engelen, B.G.M, Heijdra, Y.F, Padberg, G.W

“…Highlights • This is the largest study on pulmonary function in FSHD1 patients. • All ambulatory FSHD1 patients have normal pulmonary function. •…”
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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

“…Abstract Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a…”
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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

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Demyelinating polyneuropathy in Leber hereditary optic neuropathy by Gilhuis, H.J., Schelhaas, H.J., Cruysberg, J.R.M., Zwarts, M.J.

“…We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his…”
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Songs from childhood in the head by Gilhuis, H.J., Dara Hama-Amin, A., Renier, W.

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Inverse correlation between genetic aberrations and malignancy grade in ependymal tumors: a paradox? by GILHUIS, H. J, VAN DER LAAK, J, WESSELING, P, BOERMAN, R. H, BEUTE, G, TEEPEN, J. L. M. J, GROTENHUIS, J. A, KAPPELLE, A. C

“…The goal of our study was to investigate the inverse correlation between number of genetic aberrations and malignancy grade in ependymal tumors at the ploidy…”
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Paraneoplastic orthostatic tremor associated with small cell lung cancer by Gilhuis, H J, van Ommen, H J, Pannekoek, B J M, Sillevis Smitt, P A E

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Comparative genomic hybridization of medulloblastomas and clinical relevance: eleven new cases and a review of the literature by Gilhuis, H.J, Anderl, K.L, Boerman, R.H, Jeuken, J.M, James, C.D, Raffel, C, Scheithauer, B.W, Jenkins, R.B

“…Medulloblastomas are highly malignant primitive neuroectodermal tumors of the cerebellum that display a wide variety of histopathological patterns. However,…”
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Tc-99m-HMPAO SPECT findings on psychiatric symptoms in narcolepsy-cataplexy by Gilhuis, H.J., Droogleever Fortuyn, H.A., Oyen, W.J.G., Raes, A.C., Declerck, A.C.

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SCAN-examination of 12 patients with Narcolepsie-Cataplexy (NC) by Droogleever Fortuyn, H.A., Gilhuis, H.J., Oyen, W.J.G., Raes, A.C., Declerck, A.C.

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