Shireen R. Lamandé
0000-0003-2938-2711
Publication & Citation Trends
Publications
0 total
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Cited by 1
Semantic Scholar
10P Characterization of the severe phenotype of COL6-related dystrophy due to the recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T
Cited by 0
Semantic Scholar
O.10A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy
Cited by 0
Semantic Scholar
Research Topics
Cell Adhesion Molecules Research
(43)
Connective tissue disorders research
(37)
Muscle Physiology and Disorders
(33)
Osteoarthritis Treatment and Mechanisms
(19)
RNA Research and Splicing
(17)
Affiliations
Royal Children's Hospital
The University of Melbourne
Parks Victoria
Children's Hospital at Westmead
Murdoch Children's Research Institute