Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Müller, A R, den Hollander, B, van de Ven, P M, Roes, K C B, Geertjens, L, Bruining, H, van Karnebeek, C D M, Jansen, F E, de Wit, M C Y, Ten Hoopen, L W, Rietman, A B, Dierckx, B, Wijburg, F A, Boot, E, Brands, M M G, van Eeghen, A M
Published in BMC psychiatry (04.01.2024)
Published in BMC psychiatry (04.01.2024)
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AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Armstrong, L., Biancheri, R., Shyr, C., Rossi, A., Sinclair, G., Ross, C. J., Tarailo-Graovac, M., Wasserman, W. W., van Karnebeek, C. D. M.
Published in Neurogenetics (01.08.2014)
Published in Neurogenetics (01.08.2014)
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Natural history of cardiovascular manifestations in Marfan syndrome
van Karnebeek, C D M, Naeff, M S J, Mulder, B J M, Hennekam, R C M, Offringa, M
Published in Archives of disease in childhood (01.02.2001)
Published in Archives of disease in childhood (01.02.2001)
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Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
Strijker, M., Tseng, L.A., van Avezaath, L.K., Oude Luttikhuis, M.A.M., Ketelaar, T., Coughlin, C.R., Coenen, M.A., van Spronsen, F.J., Williams, M., de Vries, M.C., Westerlaan, H.E., Bok, L.A., van Karnebeek, C.D.M., Lunsing, R.J.
Published in European journal of paediatric neurology (01.07.2021)
Published in European journal of paediatric neurology (01.07.2021)
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Treatable inborn errors of metabolism causing neurological symptoms in adults
Sirrs, S.M., Lehman, A., Stockler, S., van Karnebeek, C.D.M.
Published in Molecular genetics and metabolism (01.12.2013)
Published in Molecular genetics and metabolism (01.12.2013)
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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
Tseng, L.A., Teela, L., Janssen, M.C., Bok, L.A., Willemsen, M.A.A.P., Neuteboom, R.F., Haverman, L., Gospe, S.M., Coughlin, C.R., van Karnebeek, C.D.M.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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An aetiological study of 25 mentally retarded adults with autism
van Karnebeek, C D M, van Gelderen, I, Nijhof, G J, Abeling, N G, Vreken, P, Redeker, E J, van Eeghen, A M, Hoovers, J M N, Hennekam, R C M
Published in Journal of medical genetics (01.03.2002)
Published in Journal of medical genetics (01.03.2002)
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Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience
van Karnebeek, C D M, Koevoets, C, Sluijter, S, Bijlsma, E K, Smeets, D F M C, Redeker, E J, Hennekam, R C M, Hoovers, J M N
Published in Journal of medical genetics (01.08.2002)
Published in Journal of medical genetics (01.08.2002)
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Prospective screening for subtelomeric rearrangements in chit ren with mental retardation of unknown aetiology: the Amsterdam experience
VAN KARNEBEEK, C. D. M, KOEVOETS, C, SLUIJTER, S, BIJLSMA, E. K, SMEETS, D. F. M. C, REDEKER, E. J, HENNEKAM, R. C. M, HOOVERS, J. M. N
Published in Journal of medical genetics (2002)
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Published in Journal of medical genetics (2002)
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