Long term follow-up of the dietary intake in propionic acidemia

gan Mobarak, A., Stockler, S., Salvarinova, R., Van Karnebeek, C., Horvath, G.
Cyhoeddwyd yn Mol Genet Metab Rep (2021)

Natural history of cardiovascular manifestations in Marfan syndrome

gan van Karnebeek, C D M, Naeff, M, Mulder, B, Hennekam, R, Offringa, M
Cyhoeddwyd 2001

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

gan van Karnebeek, C D M, Koevoets, C, Sluijter, S, Bijlsma, E, Smeets, D, Redeker, E, Hennekam, R, Hoovers, J
Cyhoeddwyd 2002

An aetiological study of 25 mentally retarded adults with autism

gan van Karnebeek, C D M, van Gelderen, I, Nijhof, G, Abeling, N, Vreken, P, Redeker, E, van Eeghen, A M, Hoovers, J, Hennekam, R
Cyhoeddwyd 2002

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

gan Balasubramaniam, Shanti, Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J.
Cyhoeddwyd yn JIMD Rep (2016)

FLNA genomic rearrangements cause periventricular nodular heterotopia

gan Clapham, K.R., Yu, T.W., Ganesh, V.S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M.M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C.A.
Cyhoeddwyd 2012

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability

gan Ferreira, C.R., Goorden, S.M.I, Soldatos, A., Byers, M., der Vlugt, J.M.M. Ghauharali-van, Beers-Stet, FS, Groden, C., van Karnebeek, C.D, Gahl, W.A., Vaz, F.M., Jiang, X., Vernon, H.J.
Cyhoeddwyd yn Mol Genet Metab (2018)

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

gan Petrij, F., Dauwerse, H., Blough, R., Giles, R., van der Smagt, J. J, Wallerstein, R., Maaswinkel-Mooy, P., van Karnebeek, C. D, van Ommen, G.-J. B, van Haeringen, A., Rubinstein, J., Saal, H., Hennekam, R., Peters, D., Breuning, M.
Cyhoeddwyd 2000

Exome Sequencing and the Management of Neurometabolic Disorders

gan Tarailo-Graovac, M., Shyr, C., Ross, C.J., Horvath, G.A., Salvarinova, R., Ye, X.C., Zhang, L.-H., Bhavsar, A.P., Lee, J.J.Y., Drögemöller, B.I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M.R., Burda, P., Connolly, M.B., Cameron, J., Demos, M., Dewan, T., Dionne, J., Evans, A.M., Friedman, J.M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O.A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K.R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S.E., Van Allen, M.I., Wishart, D., Wu, J., Wu, J., Zafeiriou, D., Kluijtmans, L., Wevers, R.A., Eydoux, P., Lehman, A.M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W.W., van Karnebeek, C.D.
Cyhoeddwyd yn N Engl J Med (2016)