Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Karnebeek, C.D. van"'
Autor:
Hollander, B. den, Veenvliet, A.R.J., Lindenschot, M., Essen, P. van, Peters, G., Santos-Gómez, A., Olivella, M., Altafaj, X., Brands, M.M., Jacobs, B.A.W., Karnebeek, C.D. van
Publikováno v:
Molecular Genetics and Metabolism, 138, 3
Molecular Genetics and Metabolism, 138
Molecular Genetics and Metabolism, 138, 107523
Molecular Genetics and Metabolism, 138
Molecular Genetics and Metabolism, 138, 107523
Item does not contain fulltext RATIONALE: To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B subunit-containin
Publikováno v:
Cold Spring Harbor Molecular Case Studies, 8
Cold Spring Harbor Molecular Case Studies, 8, 2
Cold Spring Harbor Molecular Case Studies, 8, 2
Contains fulltext : 287941.pdf (Publisher’s version ) (Open Access) Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and
Autor:
O'Byrne, J.J., Tarailo-Graovac, M., Ghani, Aisha, Champion, M.P., Deshpande, Charu, Dursun, Ali, Kluijtmans, L.A.J., Smeitink, J., Wevers, R.A., Engelke, U.F.H., Rodenburg, R.J.T., Salvarinova, R., Karnebeek, C.D. van
Publikováno v:
Molecular Genetics and Metabolism, 123, 1, pp. 28-42
Molecular Genetics and Metabolism, 123, 28-42
Molecular Genetics and Metabolism, 123, 28-42
Contains fulltext : 184066.pdf (Publisher’s version ) (Open Access)
Autor:
Rubinstein, J.H., Petrij, F., Saal, H.M., Dauwerse, H.G., Maaswinkel-Mooy, P.D., Giles, R.H., Wallerstein, R., Smagt, J.J. van der, Hennekam, R.C.M., Ommen, G-J.B. van, Karnebeek, C.D. van, Haeringen, A. van, Peters, D.J.M., Breuning, M.H., Blough, R.I.
Publikováno v:
Journal of Medical Genetics (JMG); March 1, 2000, Vol. 37 Issue: 3 p168-176, 9p