-
Stutterd, CA, Lake, NJ, Peters, H, Lockhart, PJ, Taft, RJ, van der Knaap, MS, Vanderver, A, Thorburn, DR, Simons, C, Leventer, RJ.
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations..
JIMD Rep
43:
63 -70
2019
view publication
-
Backhouse, B, Hanna, C, Robevska, G, van den Bergen, J, Pelosi, E, Simons, C, Koopman, P, Juniarto, AZ, Grover, S, Faradz, S, et al.
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches..
Sex Dev
13(1)
:
26 -34
2019
view publication
-
Mallett, AJ, Quinlan, C, Patel, C, Fowles, L, Crawford, J, Gattas, M, Baer, R, Bennetts, B, Ho, G, Holman, K, et al.
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation..
Kidney Med
1(5)
:
315 -318
2019
view publication
-
Ito, Y, Hartley, T, Baird, S, Venkateswaran, S, Simons, C, Wolf, NI, Boycott, KM, Dyment, DA, Kernohan, KD.
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy..
Neurol Genet
4(6)
:
e288
2018
view publication
-
Conant, A, Curiel, J, Pizzino, A, Sabetrasekh, P, Murphy, J, Bloom, M, Evans, SH, Helman, G, Taft, RJ, Simons, C, et al.
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis..
J Child Neurol
33(10)
:
642 -650
2018
view publication