-
Manikkam, SA, Chetcuti, K, Howell, KB, Savarirayan, R, Fink, AM, Mandelstam, SA. Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.
American Journal of Neuroradiology
39(2)
:
380 -384
2017
view publication
-
Howell, KB, Kornberg, AJ, Harvey, AS, Ryan, MM, Mackay, MT, Freeman, JL, Casero, MVR, Collins, KJ, Hayman, M, Mohamed, A, et al. Utility of chromosomal microarray.
Journal of Paediatrics and Child Health
49(9)
:
716 -724
2013
view publication
-
Lee, WS, Stephenson, SEM, Howell, KB, Pope, K, Gillies, G, Wray, A, Maixner, W, Mandelstam, SA, Berkovic, SF, Scheffer, IE, et al. Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Annals of Clinical and Translational Neurology
6(7)
:
1338 -1344
2019
view publication
-
Wan, J, Steffen, J, Yourshaw, M, Mamsa, H, Andersen, E, Rudnik-Schöneborn, S, Pope, K, Howell, KB, McLean, CA, Kornberg, AJ, et al. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia..
Brain
139(11)
:
2877 -2890
2016
view publication
-
Leong, O, Andersen, E, Yiu, EM, Green, D, Mackay, MT, Elder, JE, Howell, KB. Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.
Journal of Paediatrics and Child Health
52(8)
:
842 -846
2016
view publication