-
Steinkellner, H, Schönegger, A, Etzler, J, Kempaiah, P, Huber, A, Hahn, K, Rose, K, Duerr, M, Christodoulou, J, Beribisky, AV, et al.
An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants..
Sci Rep
9(1)
:
7929
2019
view publication
-
Lenk, GM, Berry, IR, Stutterd, CA, Blyth, M, Green, L, Vadlamani, G, Warren, D, Craven, I, Fanjul-Fernandez, M, Rodriguez-Casero, V, et al.
Cerebral hypomyelination associated with biallelic variants of FIG4..
Hum Mutat
40(5)
:
619 -630
2019
view publication
-
Costain, G, Callewaert, B, Gabriel, H, Tan, TY, Walker, S, Christodoulou, J, Lazar, T, Menten, B, Orkin, J, Sadedin, S, et al.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome..
Genet Med
21(4)
:
1021 -1026
2019
view publication
-
van der Knaap, MS, Bugiani, M, Mendes, MI, Riley, LG, Smith, DEC, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, van Gaalen, J, et al.
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy..
Neurology
92(11)
:
e1225 -e1237
2019
view publication
-
Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, et al.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis..
Ann Clin Transl Neurol
6(3)
:
515 -524
2019
view publication