Browse by Journal Title

2021

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth, K., Lozic, B., Tagoe, J., Hoffer, M.J.V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K. and Lessel, D.
Neurogenetics 22 (4): 263-269. October 2021

2013

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
Lal, D., Becker, K., Motameny, S., Altmüller, J., Thiele, H., Nürnberg, P., Ahting, U., Rolinski, B., Neubauer, B.A. and Hahn, A.
Neurogenetics 14 (1): 85-87. February 2013

2009

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Coldren, C.D., Lai, Z., Shragg, P., Rossi, E., Glidewell, S.C., Zuffardi, O., Mattina, T., Ivy, D.D., Curfs, L.M., Mattson, S.N., Riley, E.P., Treier, M. and Grossfeld, P.D.
Neurogenetics 10 (2): 89-95. April 2009

2004

Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.
Gu, W., Sander, T., Becker, T. and Steinlein, O.K.
Neurogenetics 5 (1): 41-44. February 2004

1998

The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia.
Wittekindt, O., Jauch, A., Burgert, E., Schaerer, L., Holtgreve-Grez, H., Yvert, G., Imbert, G., Zimmer, J., Hoehe, M.R., Macher, J.P., Chiaroni, P., van Calker, D., Crocq, M.A. and Morris-Rosendahl, D.J.
Neurogenetics 1 (4): 259-265. August 1998