-
Meilleur, KG, Jain, M, Kim, E, Hynan, L, Shieh, CY, Waite, M, Duong, T, Glanzman, A, Main, M, Rose, K, et al.
S.P.21 Clinical outcome measures in Collagen 6 (COL6) and Laminin α2(LAMA2) related congenital muscular dystrophy.
Neuromuscular Disorders
22(9-10)
:
893
2012
view publication
-
Quinlan, KGR, Seto, JTC, Lek, M, Zheng, FX, Garton, F, Houweling, PJ, North, KN.
RARE MYOPATHIES AND EXPERIMENTAL APPROACHES - POSTER PRESENTATIONS G.P.125 ACTN3 genotype influences skeletal muscle performance through alterations in calcineurin signaling.
Neuromuscular Disorders
22(9-10)
:
904
2012
view publication
-
Biancalana, V, Beggs, AH, Das, S, Jungbluth, H, Kress, W, Nishino, I, North, K, Romero, NB, Laporte, J.
Clinical utility gene card for: Centronuclear and myotubular myopathies.
European Journal of Human Genetics
20(10)
:
1101 -1101
2012
view publication
-
North, KN.
C.I.1 Gene Wars: Episode V. The clinician strikes back.
Neuromuscular Disorders
22(9-10)
:
838
2012
view publication
-
Acosta, MT, Bearden, CE, Castellanos, XF, Cutting, L, Elgersma, Y, Gioia, G, Gutmann, DH, Lee, Y, Legius, E, Muenke, M, et al.
The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research.
American Journal of Medical Genetics Part A
158A(9)
:
2225 -2232
2012
view publication