-
Schönewolf-Greulich, B, Bisgaard, A-M, Dunø, M, Jespersgaard, C, Rokkjaer, M, Hansen, LK, Tsoutsou, E, Sofokleous, C, Topcu, M, Kaur, S, et al.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements..
Clin Genet
95(3)
:
403 -408
2019
view publication
-
Schönewolf-Greulich, B, Bisgaard, A-M, Møller, RS, Dunø, M, Brøndum-Nielsen, K, Kaur, S, Van Bergen, NJ, Lunke, S, Eggers, S, Jespersgaard, C, et al.
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature..
Clin Genet
95(2)
:
221 -230
2019
view publication
-
Rius, R, Riley, LG, Guo, Y, Menezes, M, Compton, AG, Van Bergen, NJ, Gayevskiy, V, Cowley, MJ, Cummings, BB, Adams, L, et al.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child..
Mol Genet Metab
126(1)
:
77 -82
2019
view publication
-
Van Bergen, NJ, Guo, Y, Rankin, J, Paczia, N, Becker-Kettern, J, Kremer, LS, Pyle, A, Conrotte, J-F, Ellaway, C, Procopis, P, et al.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses..
Brain
142(1)
:
50 -58
2019
view publication
-
Singh, LN, Crowston, JG, Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Hewitt, AW, Yazar, S, Mackey, DA, Wallace, DC, Trounce, IA.
Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma..
Invest Ophthalmol Vis Sci
59(11)
:
4598 -4602
2018
view publication