-
Schönewolf‐Greulich, B, Bisgaard, A, Dunø, M, Jespersgaard, C, Rokkjær, 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.
Clinical Genetics
95(3)
:
403 -408
2019
view publication
-
Schönewolf‐Greulich, B, Bisgaard, A, 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.
Clinical Genetics
95(2)
:
221 -230
2019
view publication
-
Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, et al.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Annals of Neurology
83(6)
:
1105 -1124
2018
view publication
-
Ghaoui, R, Benavides, T, Lek, M, Waddell, LB, Kaur, S, North, KN, MacArthur, DG, Clarke, NF, Cooper, ST.
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Neuromuscular Disorders
26(8)
:
500 -503
2016
view publication
-
O'Grady, GL, Lek, M, Lamande, SR, Waddell, L, Oates, EC, Punetha, J, Ghaoui, R, Sandaradura, SA, Best, H, Kaur, S, et al.
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
Annals of Neurology
80(1)
:
101 -111
2016
view publication